Translation Disclaimer

Home > Diagnoses & Conditions > Duchenne and Becker Muscular Dystrophy

Duchenne and Becker Muscular Dystrophy

Description

Other Names

Dystrophinopathy (Duchenne, Becker, and intermediate muscular dystrophies are somewhat arbitrary categories of dystrophinopathy), pseudohypertrophic muscular dystrophy

Diagnosis Coding

ICD-9

359.1, hereditary progressive muscular dystrophy

Additional codes for associated conditions can be found at DMD-ICD9(PDF Document 65 KB).

ICD-10

G71.0, muscular dystrophy

ICD-10 Muscular Dystrophy Coding provides more detail.

Description

Duchenne (DMD), Becker (BMD), and intermediate (IMD) muscular dystrophy represent varying clinical presentations of an X-linked, progressive symmetric muscle weakness caused by a relative or absolute absence of dystrophin, a muscle protein. The weakness, greater proximally than distally, occurs because muscles are gradually replaced with fatty, fibrotic connective tissue. See Muscle Biopsy Images (Washington University NDC). DMD refers to the earliest, most common, and most severe form of the disease. It occurs primarily in males, although occasionally female carriers demonstrate increasingly recognized manifestations such as cardiac and motor issues, especially later in adulthood. BMD presents later in childhood or adolescence; IMD refers to cases of intermediate severity between DMD and BMD.

Boys with DMD will present in the preschool years with muscle weakness, difficulty walking, and large calves. Over time, muscle weakness worsens resulting in loss of ambulation by 8 to 13 years of age. Orthopedic manifestations of DMD, such as toe-walking, contractures of the ankles, knees, and hips, and scoliosis, are common. Bowel and bladder function are often mildly affected with symptoms of constipation and urinary urgency. Mild to moderate developmental delay is common, but not universal. Treatment with oral corticosteroids can prolong the ability to walk by several years. After loss of ambulation, muscle weakness continues to progress and respiratory weakness leads to difficulty breathing. Susceptibility to respiratory infection and progressive deterioration of pulmonary function generally lead to premature death, usually in the twenties. Cardiomyopathy is common and generally progressive. Oral corticosteroids use and proactive care of heart and respiratory issues, including early surgery for scoliosis and early use of non-invasive ventilation, has enabled affected boys to walk longer, live to adulthood, and making meaningful contributions to the community.

Boys with BMD present with weakness later in childhood, adolescence, or even young adulthood. Progression is much slower and life expectancy is longer. Cardiac problems are common in boys and adults with BMD.

Prevalence

DMD occurs in approximately 1 in 3,500 male births and is the most common childhood muscular dystrophy. [Dubowitz: 1995] BMD and IMD are much less common; differences in definitions of these clinical presentations make prevalence data problematic.

Genetics

DMD, BMD, and IMD are X-linked and caused by mutations in the DMD gene, which codes for the dystrophin protein. Dystrophin is large and has many possible mutations, including various deletions, duplications, and point mutations. Seventy percent of mutations are deletions of one or more exons. Some areas of the gene are more prone to mutation than others. Although most mutations are known to be associated with either a milder (Becker-like) or more severe (Duchenne-like) phenotype, this is not true of all the known mutations. [Flanigan: 2009] Because of the complex genetics of the disease and that one third of cases are thought to be due to new mutations, there is often no family history of DMD. Emerging therapies such as exon skipping and nonsense mutation readthrough are dependent on the mutation, emphasizing the need for a confirmed genetic diagnosis. For more information, see Genetics of Duchenne Muscular Dystrophy, Dystrophinopathies (GeneReviews), and Muscular Dystrophy, Duchenne (OMIM).

Prognosis

Boys with DMD usually become non-ambulatory by age 12 and die in their mid-twenties of respiratory complications. Treatment with steroids starting in early childhood improves life expectancy, as does comprehensive, proactive medical care. Individuals with BMD often have a life expectancy into the 40s or later, and often walk into their 30s. Up to 50% of individuals with BMD die of cardiac complications. Cardiac death is less common in individuals with DMD (20%), but likely to become more common as pulmonary complications are increasingly prevented and these patients are living longer. [Darras: 2008]

Roles Of The Medical Home

The Medical Home assures continuity of care, coordinates care with subspecialists and other providers, and helps connect families with needed resources and services. For children with DMD, other key roles include collaborating with subspecialists and monitoring for side effects from steroids (e.g., weight gain, behavior changes, osteoporosis, and hypertension) and problems that indicate need for further intervention, such as increasing shortness of breath, increasing difficulty walking, and developmental delay. The Medical Home may assist with an Individualized Education Plan (IEP) and 504 plan, often needed for physical education and toileting; paperwork for a handicapped license plate (often downloadable from the state DMV web site); and suggestions for parent support networks and local, state, and national resources. Continuing family education would include information about disease progression and emerging treatments. As respiratory complications arise, the Medical Home should help the family understand the risks and benefits of potential interventions. Quality of life issues and end-of-life directives are important topics to discuss, though some families may be uncomfortable doing so in their son's presence. Pain can also become a significant issue as affected children reach adolescence. The Medical Home can support the family regardless of their choice to intervene minimally or provide full ventilatory support (physicians often underestimate quality of life on a ventilator). [Gibson: 2001] Referral to a hospice and wish-granting organizations may be appropriate. See (Services & Resources) for wish-granting organizations, family resources, clinical tools, and educational materials.

Practice Guidelines

Helpful Articles

Directed by a group of experts in Duchenne and Becker muscular dystrophy, DuchenneConnect.Org provides selected references for care considerations.

PubMed search on Duchenne muscular dystrophy: review articles over the last 5 years

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, Weiss RB.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat. 2009;30(12):1657-66. PubMed abstract

Bushby K, Bourke J, Bullock R, Eagle M, Gibson M, and Quinby J.
The multidisciplinary management of Duchenne muscular dystrophy.
Current Paediatrics. 2005;15:292-300. / Full Text

Clinical Assessment

Overview

DMD is the most common childhood muscular dystrophy. Preschool-aged males with DMD presentations should have a creatine kinase (CK) measured with referral as needed.

In addition to regular well-child checks and acute care visits, boys with DMD, BMD, and IMD need ongoing assessment in the following areas:
  • strength and mobility
  • cardiac
  • pulmonary
  • GI/nutrition
  • orthopedics
  • bone density
  • dental
  • psychosocial
Coordinate care with a multi-disciplinary neuromuscular clinic; if none are available, the Medical Home will need to ensure proper surveillance. Assessment needs will change with steroid treatment since height/weight, bone mass, temperament, skin, eye exam (early cataracts with deflazacort), and susceptibility to infection may be affected. The Muscular Dystrophy Visit Checklist(PDF Document 41 KB) provides a printable visit checklist.

Screening

For The Condition

Efforts for approval of newborn screening for DMD are underway. [Mendell: 2013]

Of Family Members

Mothers of boys with DMD who have a known mutation, and female siblings over age 18, should be screened for carrier status and counseled accordingly. Symptomatic cardiomyopathy and mild motor symptoms are increasingly recognized in carrier females; screen for cardiomyopathy with a baseline echocardiogram in adolescence, then every 5 years starting at 25-30 years of age.

If carrier status is confirmed, prenatal testing and preimplantation diagnosis for subsequent pregnancies are available. For families who have not yet identified a mutation, have not had genetic testing, or, are not interested in prenatal testing, check the CK of male infants several weeks after birth (it may be falsely high right after birth) to determine likelihood of DMD. Follow by genetic testing if the CK is abnormal.

For Complications

See the practice guidelines DMD-Part 1: Diagnosis, Pharmacological & Psychosocial Management (HHS) and DMD-Part 2: Implementation of Multidisciplinary Care (HHS) for screening of the many associated complications/comorbidities.

Presentations

Patients typically present with proximal muscle weakness, manifested as difficulty getting up from the floor, and large calves. The mean age of diagnosis of DMD, without a family history, is 4 to 5 years old. Affected boys may also have developmental delay and toe walking. Symptoms are often identifiable by age 2, but diagnosis is delayed an average of 2.5 years. [Ciafaloni: 2009] For an excellent review of presenting symptoms in patients with neuromuscular disease including photographs and video of boys with DMD demonstrating hypertrophied calf muscles, gait abnormalities, and the Gowers' sign, see Presenting Symptoms in DMD (childmuscleweakness.org).

Diagnostic Criteria

DMD/BMD/IMD may be diagnosed based on typical clinical presentation, lack of or decrease in dystrophin staining on a muscle biopsy, and/or the demonstration of a mutation in the DMD gene.

Clinical Classification

The diagnosis of Duchenne, Becker, and intermediate muscular dystrophy may depend on the examiner's judgment, particularly before age 12. Some boys fit easily into a category: The boy who presents at age 2 and uses a wheelchair exclusively by age 10 has Duchenne, whereas the boy who presents at age 11 and is still walking at age 17 has Becker. But there are many in-between cases, and the nomenclature is not as important as understanding that they all are due to a mutation in the dystrophin gene and that they all will have progressive muscle weakness and, in many cases, cardiac problems. Literature is increasingly evaluating the links between genotype and phenotype in these disorders.

Differential Diagnosis

Given the high prevalence of DMD, a diagnosis of DMD is likely when, for example, there is a 4- to 5-year-old boy with an unusual gait, Gowers' sign, and a marked elevation in CK. Still, other neuromuscular disorders should be considered. Before genetic testing and/or dystrophin protein staining on biopsy were available, DMD/BMD/IMD could be confused with spinal muscular atrophy (SMA), congenital myopathies, other muscular dystrophies (especially limb girdle), polymyositis, and other muscle diseases. Using current technology, genetic diagnosis provides definitive diagnosis in >95% of patients.

Pearls & Alerts

Negative genetic testing

When clinical presentation is consistent with DMD, but negative genetic testing exists, a muscle biopsy with dystrophin staining should be performed. Some genetic testing laboratories are able to detect up to 95% of mutations in the dystrophin gene. (See University of Utah DMD Deletion and Mutation Screening.) Even with the best available technology, 5% of genetic diagnoses remain elusive due to genetic anomalies that are difficult to detect under routine testing paradigms. In these cases, absence of dystrophin staining on muscle biopsy confirms the diagnosis. Additional testing may be available in some centers on a research basis.

Females with DMD symptoms

Non-random inactivation of the X chromosome is likely responsible for the 8-10% of female manifesting carriers who have mild symptoms of DMD. [Soltanzadeh: 2010] In the early embryo stage of females, one X chromosome is inactivated in each cell, resulting in half of the embryo's X chromosomes being from the mother and half from the father. Occasionally, there is disproportionate inactivation of the X chromosomes from one parent. When this happens to the normal X chromosomes in a DMD carrier, sufficient reduction in dystrophin production results in symptoms including proximal muscle weakness, tea-colored urine (myoglobinuria) on exertion, and high creatine kinases (generally in the thousands).

Mosaic carriers

During initial evaluation of a boy with DMD, maternal genetic testing helps determine if the mother is a carrier. Approximately 9 to 14% of mothers who are carriers may be missed by standard genetic testing because of germline mosaicism, where the maternal germ cells carry the mutation but somatic cells (including blood cells) do not. [Helderman-van: 2009] [Bakker: 1989] Mothers testing negative for carrier status should be warned about this possibility.

Mothers of boys with DMD

Even asymptomatic carrier mothers of boys with DMD may present with cardiac problems later in life. Mothers of boys with DMD, particularly those known to be carriers, should be evaluated by their physicians for early heart disease. Echocardiograms and EKGs are recommended every 5 years, and more frequently if abnormalities are found.

History & Examination

When the clinical presentation is typical of DMD, a marked elevation in creatine kinase (CK) allows a provisional diagnosis of DMD pending further testing. Typical CK levels at diagnosis range from 10-100 times normal. CK levels are not predictive of DMD vs BMD, but CK elevation is generally not as high in boys with BMD. A high CK is not specific; it can be elevated in muscular dystrophies other than DMD/BMD/IMD. Genetic testing is the gold standard for diagnosis: It provides a specific diagnosis, is non-invasive, and may be helpful in counseling family members. Dystrophin analysis on a muscle biopsy is diagnostic for DMD, but does not inform genetic counseling. A biopsy may be performed when a child is having surgery for tight heel cords, which often accompany this condition – if positive, it should be followed with genetic testing for mutations in the DMD gene.

In earlier stages, monitor for muscle strength and endurance and progression of contractures in ankle and hamstrings. Does the child fall frequently, have muscle pain after exertion, or get so tired the family does not bring him along? Later on, look carefully for complications of muscle weakness, including muscle contractures, scoliosis, decubitus ulcers, cardiomyopathy, respiratory muscle weakness (cough strength), nocturnal hypoventilation, dysphagia, malnutrition/obesity, and constipation.

Family History

Maternal uncles may have the disease or, more likely, will already have died of DMD. Older brothers may also be affected, in which case children may be genetically tested before birth or have a creatine kinase (CK) done several weeks after birth. CK should not be performed at birth as delivery may raise the value even in boys without DMD. Families of children with DMD should have genetic counseling before future pregnancies. See Genetics of Duchenne Muscular Dystrophy. Boys with BMD may have uncles or brothers with BMD as well; families do not have both BMD and DMD clinical presentations except in very rare circumstances.

Pregnancy Or Perinatal History

Pregnancies with, and deliveries of, children with DMD/BMD/IMD are not distinctive.

Current & Past Medical History

GI/nutrition: Ask about weight gain and loss, calcium and vitamin D intake, activity level, constipation and toileting at school, water intake, and any difficulty with choking or swallowing liquids or solids. Treatment with corticosteroids complicates nutritional issues and may result in significant weight gain, particularly as boys become less active. Weight loss issues become more significant in later stages when mechanical aspects of eating limit intake.
Muscle strength and mobility: Ask about progression of weakness and fatigue. If walking, do frequent falls or difficulty with short treks signal the need for a scooter or wheelchair? Can the family go to the grocery store, or other places, without having to use a stroller? Can the child get up from the floor by himself? Is there difficulty negotiating stairs? Is the home wheelchair accessible? Does the family have a handicapped placard or license plate?
Cardiac/pulmonary: Any history of palpitations, shortness of breath, or dizzy spells? A sleep history (awakening, snoring, refreshed upon awakening, sleep position, AM headaches) can provide clues to possible nocturnal hypoventilation. The decreased activity of children in wheelchairs with endstage disease can make cardiovascular symptoms difficult to notice.
Immune: With steroidal use, ask about problems with frequent or severe infections; and, for annual flu shots, use the injected killed virus variety, rather than the intranasal live virus.
Orthopedic manifestations
: Any fractures? Contractures? Scoliosis? Recent visits to orthopedics? Last X-rays. Dexa scan results, if any?
Dental: Last dental exam/treatment?

Developmental & Educational Progress

Ask about gross motor and language delays. Cognitive delays are common in boys with DMD with full scale IQ's averaging 88. [Snow: 2013] School difficulties and/or learning problems should be inquired into in school age children.

Maturational Progress

Puberty changes? Chronic treatment of oral corticosteroids can delay puberty. Toileting concerns with adolescence?

Social & Family Functioning

Exploring strengths and needs of the family of a child with newly diagnosed DMD/BMD/IMD will help the Medical Home anticipate family functioning in the future. Emotional status, depression? Behavior changes or attention problems if the boy is on steroids. Leisure activities? Family coping and resources? Autism spectrum symptoms?

Physical Exam

General

Boys with DMD are often quiet and rely on family members to answer questions. Look for Cushingoid facies if on steroid treatment. Look for signs of the wheelchair needing fitting or repair. (See How to Know If a Wheelchair Fits.) Look for excessive hair growth if on steroids. Look for a withdrawn demeanor in adolescents that may signal depression and social isolation.

Vital Signs

BP | HR for changes secondary to steroid treatment. See Blood Pressure Percentiles for Boys (Medcalc3000).

Growth Parameters

HT | WT | BMI: Young children with DMD may exhibit decreased weight due to a decreased muscle mass; older boys with DMD, especially those on steroids, may be obese. Triceps skin fold measurements may be helpful. See the BMI Calculator (KidsHealth).

Skin

Look for excessive acne and striae if the patient is on steroids.

HEENT

Deflazacort and prednisone are associated with early cataracts. Check for a robust red reflex bilaterally.

Heart

Cardiac and pulmonary exams are initially normal. With progression, signs of cardiac dysfunction such as murmurs, irregular beats, and unusual heart sounds may appear. The cardiac examination may, however, remain relatively normal even with advanced disease. Symptoms of weak cardiac muscle include shortness of breath and easy fatigue. As weakness progresses, lung volume decreases. Check cough strength; although subjective, a weak cough in the office should prompt further evaluation such as peak expiratory flow or other PFTs and a referral to pulmonology. Severe scoliosis can affect cardiopulmonary function.

Extremities/Musculoskeletal

Look for large calves, heel cord, and hip abduction contractures; a waddling lordotic walk, with increased difficulty when trying to run; and, difficulty getting up from the floor. See Gowers' Sign Video (youtube). Observe for difficulty going up and down stairs. Muscles, especially those with pseudohypertrophy, may feel "woody." Circulation is often severely impaired in the feet and lower legs (as they are often in a dependent position for long periods of time). Contractures appear – early on, ankle tendons are tight and, later, contractures are also noted at the knee (hamstring) and at the hips (hip flexors). Scoliosis is common.

Neurologic Exam

At diagnosis, look for proximal muscle weakness, decreased reflexes (although normal reflexes do not exclude diagnosis), normal sensory and cranial nerve exams. A waddling, wide-based, lordotic gait is typical, as the pelvis drops to the side of the leg being raised. There is often a forward curvature of the lumbar spine. Toe walking may also be noted, due to contractures of the heel cord. Boys may not be able to run, or the waddling might become more prominent when they try. With progression, boys will have increased difficulty with stairs and a more prominent Gowers' sign. Over time, boys will demonstrate decreased, symmetrical proximal muscle strength. Hip girdle muscles are affected first, followed closely by shoulder girdle muscle weakness. Muscles feel 'woody.' Muscles become atrophied and muscle mass is decreased. Walking becomes increasingly difficult; most children become nonambulatory around 10-12 years of age. See excellent videos at Presenting Symptoms in DMD (childmuscleweakness.org).

Boys with BMD may present later, but with a similar distribution of weakness in proximal muscles, particularly the hip girdle muscles. Progression is slower and walking continues into the late teens, sometimes into the thirties or more. Neck flexion strength in individuals with BMD is often preserved.

Testing

Laboratory Testing

A very elevated creatine kinase (CK) is not specific for DMD, but almost always present; values from boys with DMD are in the thousands (20,000 or higher is not unusual). A CK is useful for diagnosis only; its level is not followed once diagnosis is established. The degree of elevation is not significant at diagnosis; for instance, a value of 20,000 in one patient does not indicate a more severe form of DMD than a value of 12,000 in another patient. Liver enzymes (AST and ALT) are often abnormally high as well, reflecting leaky muscle fiber membranes rather than liver disease (unless other signs of liver disease, such as jaundice or abnormal clotting, are present). Elevated liver enzymes sometimes bring a child to the attention of a gastroenterologist before muscle disease is diagnosed. If so, measurement of the liver-specific enzyme, gamma glutamyl transferase (GGT) should be normal, as should bilirubin and alkaline phosphatase measures.

CK is not as reliably elevated in boys with BMD or IMD, or in boys with advanced DMD and very low muscle mass.

Urinary or blood monitoring for impaired glucose tolerance should be performed periodically for boys on steroids.

Imaging

Not indicated for the diagnosis of DMD.

Genetic Testing

Molecular genetic testing should be performed to confirm the diagnosis and guide genetic counseling for family members. The type of mutation may determine the boy's eligibility for clinical trials, e.g. nonsense readthrough and exon skipping therapies now in clinical trials. See Research in DMD (PPMD). Because not all mutations can be identified, a negative genetic test does not rule out DMD. Some labs offer limited testing while others are able to detect the mutation in >95% of the cases. For the most comprehensive genetic testing, see University of Utah DMD Deletion and Mutation Screening and Genetic testing labs - dystrophinopathies (GeneTests). If the genetic testing is negative but the clinical situation is highly suggestive of DMD, a muscle biopsy is recommended.

Other Testing

Muscle biopsy: Preferred by some professionals for diagnosis of DMD, muscle biopsy may also be useful with negative genetic testing. In addition to non-specific signs of muscular dystrophy, including muscle fiber degeneration and regeneration, central nuclei, and replacement of muscle fibers by fat and connective tissue, dystrophin staining will be 0-5% in boys with DMD and 20-50% in boys with BMD. [Darras: 2008]
EKG and echocardiogram: At diagnosis, biannually until age 10, and then yearly, and preoperatively if undergoing general anesthesia.
Cardiac MRI: Some cardiologists use an MRI to assess cardiac structure and function in boys with DMD. In older boys, or those with significant chest wall deformities, echocardiographic images may be limited and a cardiac MRI will provide better functional assessment. In addition, using contrast agents with cardiac MRI allows assessment of scarring of the heart muscle.
Spine x-rays: To look for scoliosis or compression fractures, as clinically indicated.
PFTs and overnight oximetry: 1-2 times per year, starting when boys become non-ambulatory or as clinically indicated.
Ophthalmologic exam: Yearly, if the patient is on steroids.
Dexa scan: Consider if risk factors are high (e.g., nonmobility, poor calcium/vitamin D intake, previous fractures, on steroids) or if there have been fractures.

Subspecialist Collaborations & Other Resources

Muscular Dystrophy Clinics (see Services below for relevant providers)

A multidisciplinary approach to care of boys with DMD is preferred. MDA Clinics, which are sponsored by the Muscular Dystrophy Association, are found in many locations nationally and often have various subspecialists available. Visits to the MDA Clinic are free for the uninsured. These clinics also may be involved in research protocols for treatment of children with DMD. See Find Your MDA Clinics (MDA.org) for clinic locations and local details.

Pediatric Neurology (see Services below for relevant providers)

If a multidisciplinary clinic is not available, consider a referral to pediatric neurology with expertise in muscle disease for confirmation, genetic testing, counseling, and the initiation of treatment. Collaboration with the Medical Home should assure visits at six-month intervals to monitor the disease and order specific screening (e.g., ECHO and pulmonary function testing).

Pediatric Genetics (see Services below for relevant providers)

Geneticists or genetic counselors help educate the family and determine the risk for subsequent children. Several visits may be needed to handle the large amount of information and to address new questions. Genetic expertise may be available in a multidisciplinary clinic for muscle disease.

Pediatric Orthopedics (see Services below for relevant providers)

Consider referral to orthopedics for baseline evaluation and management of contractures, gait problems, and the need for equipment for ambulation, such as walkers. Initially these visits may be every year, but, as the disease progresses, the child may need to be seen at 6-month intervals.

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

A referral to physical medicine and rehabilitation may help in the evaluation of contractures, gait problems, and obtaining aids for ambulation. PM&R may be available at MDA Clinics.

Social Work (see Services below for relevant providers)

Families may need social work at diagnosis for counseling and finding available financial and community resources. Should be available on an ongoing, as needed basis for questions regarding the emotional impact of the disease on the family and child, for help negotiating available services (e.g., funding for a ramp to the home), and for school issues.

Physical Therapy (see Services below for relevant providers)

Periodic visits with PT can help to evaluate and maintain abilities. Frequency of visits should be based on many factors (need, financial resources, availability, and access) and should be balanced with the goals of treatment (ranging from post-surgical PT to a home-therapy program taught to the parents).

Pediatric Cardiology (see Services below for relevant providers)

Boys with DMD and BMD should receive cardiac evaluation with echocardiogram (or MRI) and EKG at diagnosis, every two years until age 10, and then annually. Additional visits before general anesthesia are also recommended.

Pediatric Pulmonology (see Services below for relevant providers)

Boys with DMD should initially see a pulmonary specialist for a baseline evaluation and then visit regularly after loss of ambulation. Periodic screening may include pulmonary function testing and/or overnight oximetry. If overnight oximetry is abnormal, an overnight sleep study determines if NIPPV (noninvasive positive pressure ventilation) is needed. If needed, a specialist will fit the child with NIPPV equipment and determine settings. Cough strength should also be evaluated.

Nutrition/Dietary (see Services below for relevant providers)

Early referral should be made for patients who become overweight (which makes it more difficult for already weak muscles to move the body) or underweight (no reserve, risk of pressure ulcers).

Bone Densitometry/DEXA (see Services below for relevant providers)

Bone densitometry can guide dietary and physical therapy interventions. Children who are on steroids, non-ambulatory, have low bone density on x-ray, have low calcium and/or vitamin D intake, or who have had fractures, are particularly at risk.

Pediatric Ophthalmology (see Services below for relevant providers)

Children taking steroids should have periodic eye exams for cataracts.

Treatment & Management

Pearls & Alerts

Before starting steroids, ensure immunity to chicken pox and, if warranted, test for tuberculosis. Make sure all immunizations are up to date, especially pneumococcus. While on steroids, annual influenza shots should be injectable, killed-virus type.

Depolarizing muscle agents should be avoided during anesthesia due to risk for malignant hyperthermia. See [Birnkrant: 2007] and [Hayes: 2008].

Nocturnal hypoventilation can be monitored for by taking a sleep history (awakening, snoring, refreshed upon awakening, AM headaches).

Cough strength assessment should not be forgotten during appointments. Although subjective, if cough strength is weak, consider a pulmonology referral and/or a prescription for a cough-assist device.

Systems

Neurology

Long-term studies of boys with DMD show that steroid treatment improves their muscle strength and function and results in fewer complications, particularly scoliosis. [Moxley: 2005] [Manzur: 2008] Evidence suggests that steroids have a beneficial effect on respiratory and cardiac function. [Markham: 2008] [Bushby: 2005] [Schram: 2013]

Before starting steroids, immunizations should be up to date and immunity to varicella and pneumococcus confirmed. Also, because steroid use in DMD is associated with an increased risk for osteoporosis, 25-OH vitamin D levels should be checked and referral made to a dietician to determine typical calcium and vitamin D intake. If necessary, recommend dietary calcium and vitamin D supplements. A baseline DEXA scan to assess bone mineral density at the commencement of steroid treatment is also recommended. [Quinlivan: 2005] See also Osteoporosis in Duchenne Muscular Dystrophy and Calcium and Vitamin D (general).

Little evidence exists on optimum time to start prednisone or how long to continue it. Some investigators believe it should be started as early as possible and others believe that treatment should start at age 5. [Manzur: 2008] [Merlini: 2003] The recommended dosage of oral prednisone/prednisolone is 0.75 mg/kg/day (although doses as low as 0.3 mg/kg/day have some beneficial effect). Some experts will dose prednisone daily, while others prefer alternate regimens that may decrease side effects, particularly during the school week. Two alternate regimens are:
  • on alternate days, averaging at 0.75 mg/kg/day
  • a week's dose of prednisone (5.25 mg/kg/week) given in 2 divided doses on weekend days.
Depending on the type/severity of emerging side effects with treatment, the clinician may decrease the dose from 0.75 to 0.5, or even 0.3 mg/kg/day. Potential side effects of steroid treatment include:
  • hypertension
  • behavioral problems
  • weight gain, with Cushingoid appearance and failure to gain expected height
  • osteoporosis
  • impaired immune and adrenal function
  • impaired glucose tolerance
  • gastrointestinal symptoms, including discomfort and gastric ulcers
  • cataracts
  • excessive hair growth
  • acne and striae
Boys on steroids should avoid non-steroidal anti-inflammatory medications, due to the increased risk of gastric irritation. Antacids, H2-blockers, or proton pump inhibitors may be used if there are complaints of stomach pain or heartburn. Calcium carbonate tablets may be doubly useful as a calcium supplement and as an antacid.


Deflazacort, (not available in the US), is thought to have the same efficacy as prednisone but with a different side effect profile, including a greater incidence of cataracts but less weight gain. Parents may ask about this drug and some may wish to order it from abroad via the Internet. The dose is 0.9 mg/kg/day. See [Houde: 2008].

All boys on steroids should be monitored for efficacy and side effects, including:
  • height, weight, and BMI monitoring, check face for Cushingoid features
  • blood pressure surveillance
  • fasting or random blood glucose surveillance
  • mood and behavior changes
  • skin changes
  • GI symptoms
  • history of fractures
  • history of frequent infections
  • eye changes
Some of the side effects, such as weight gain and behavioral changes, can be managed without changing the steroid dose. Some side effects including weight gain that doesn't respond to treatment, unacceptable behavior problems, high fasting/postprandial glucoses or diabetes, confirmed persistent hypertension, or severe GI complications, require dose reduction or stopping steroids.

Stopping Steroids

Some experts continue to give steroids after boys with DMD become non-mobile since pulmonary and cardiac function may still benefit. [Balaban: 2005] Steroids should be tapered over time and not stopped abruptly due to the risk of adrenal suppression. Common practice is to go to 1/2 of the original dose for a week, then 1/2 of that dose for a week, and then 1/2 of that dose for a week before stopping.

Subspecialist Collaborations & Other Resources

Muscular Dystrophy Clinics (see Services below for relevant providers)

Boys with DMD and BMD should be referred periodically to a multidisciplinary neuromuscular clinic, such as an MDA clinic, when available.

Pediatric Neurology (see Services below for relevant providers)

When a multidisciplinary clinic is not available, consider a referral to pediatric neurology for treatment or co-management.

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

If not available at the multidisciplinary clinic, consider periodic referrals to physiatry to follow mobility issues and activities of daily living.

Physical Therapy (see Services below for relevant providers)

Consider a baseline referral to physical therapy to evaluate and prevent contractures, maintain conditioning, and perform wheelchair fitting as needed. The frequency of visits should be guided by need, financial resources, availability, and access. Visits should be balanced with treatment goals (e.g., post-surgical PT or a home-therapy program taught to the parents).

Cardiology

Until recently, respiratory problems have been the main cause of death in boys with DMD. As they live longer with better management of respiratory problems, more patients will experience significant cardiac problems. Cardiac complications also occur in Becker and intermediate muscular dystrophy; in fact, death due to cardiac problems is the most common cause of death in individuals with BMD. [Darras: 2008] The most common cardiac problem is dilated cardiomyopathy, or an enlarged heart with poor squeezing function. When the echocardiogram (or MRI) shows a deterioration of cardiac function, experts recommend starting an angiotensin converting enzyme (ACE) inhibitor to limit further deterioration of cardiac function, even if the boy is not having any obvious problems. Patients with dilated cardiomyopathy will often progress to heart failure and cardiologists may add beta-blockers and diuretics. Left ventricular assist devices (LVADs) may also be an option for boys with heart failure.

Especially with advanced cardiomyopathy, arrhythmias are common, and periodic Holter monitoring should be considered. Thromboembolic events may occur in boys with significant cardiomyopathy and anticoagulant therapy may be warranted.

See also Cardiomyopathy in Duchenne Muscular Dystrophy.

Subspecialist Collaborations & Other Resources

Pediatric Cardiology (see Services below for relevant providers)

Baseline and subsequent periodic visits to pediatric cardiologists familiar with DMD are recommended for evaluation and treatment of cardiac complications

Respiratory

Overview
Boys with DMD usually die from complications related to the respiratory system, particularly respiratory failure during an infection. Symptoms of pneumonia should prompt evaluation by the Medical Home. Pneumovax and influenza vaccines should be kept up to date. Death from pneumonia/respiratory failure occurs in approximately 75% of older boys with DMD, often occurring within approximately one year of the appearance of daytime hypercapnia; this may be delayed with appropriate intervention. [Ishikawa: 1999] [Simonds: 1998] See [Birnkrant: 2010] for the newest respiratory guidelines for the care of children with DMD.

Early in the course of DMD, progressive muscle weakness leads to nocturnal hypoventilation and hypoxia, but the process is gradual and patients may not be aware of the problem. Begin monitoring for signs and symptoms of respiratory problems once the child is non-ambulatory. Inquire about symptoms of nighttime hypoventilation:
  • morning headache
  • daytime sleepiness
  • increased restlessness during sleep, increased need for turning during sleep
Boys with DMD should be evaluated with pulmonary function testing and home oxygen saturation monitoring approximately every six months after they become non-ambulatory. Referral to a pediatric pulmonologist for management is recommended. Respiratory muscle weakness leads to weak coughing and difficulty clearing secretions, especially during respiratory illnesses. Manual-assisted cough training and cough-assist devices are helpful for these patients, and will generally be recommended when necessary by pulmonology. Consider a cough-assist device when the boy is in a wheelchair full time, has difficulty clearing respiratory secretions, has a weak cough, and/or gets frequent respiratory illnesses. See Sample Letters of Medical Necessity (Dr. Bach) for information about getting these devices approved by insurance.

Assisted Nighttime Ventilation
Several studies have suggested that assisted night-time ventilation (non-invasive intermittent positive pressure ventilation or IPPV) can improve general health and life expectancy; boys with DMD may notice less frequency of chest infections, more energy, and better sleep. [Bach: 1995] However, respiratory muscle weakness will continue to progress and assisted daytime ventilation will become necessary during illnesses and then on a more regular basis. Intervention may be by non-invasive techniques or by tracheostomy, depending on local experience and patient/family preferences. See DMD Respiratory Care (Consensus Statement, ATS)(PDF Document 102 KB), [Finder: 2004] and [Birnkrant: 2010].

Some patients and their families choose not to pursue assisted ventilation. Families should be counseled about options and supported in their choices.

Subspecialist Collaborations & Other Resources

Pediatric Pulmonology (see Services below for relevant providers)

Evaluate for baseline lung function testing when approaching full-time wheelchair use. Annual, or bi-annual visits may be helpful after age 12, after full-time wheelchair use, or if vital capacity is below 80% predicted.

Musculoskeletal

Contractures
When first diagnosed, a majority of patients have tight heel cords and a history of toe-walking. An orthopedic surgeon, experienced in the care of children with DMD, should be consulted to follow this problem and initiate treatment. Treatment might include ankle-foot orthoses (AFOs), heel cord stretching exercises, night splinting, and/or serial casting. At some point, surgery may be necessary to lengthen heel cords, despite other treatments. Some investigators suggest waiting until the fixed deformity is greater than 20 degrees, whereas other investigators suggest early prophylactic muscle/tendon lengthening procedures. In boys who have significant weakness the risk of losing ambulation due to a prolonged non-weight bearing period after surgery exists. Surgery should be considered carefully in light of this risk, and if performed, early mobilization is imperative. Reasons to consider surgery include:
  • Heel cord lengthening may prolong the ability to walk
  • Preventing foot deformities after wheelchair confinement may help with positioning and allow continued shoe wearing
Surgery usually involves performing a tenotomy of the Achilles tendon and the posterior tibial tendon, followed by 4-6 weeks in a cast, after which a solid AFO is worn. Some orthopedic surgeons advocate posterior tibial tendon transfer to the dorsum of the foot to allow the child to be brace-free after the surgery.


As the disease progresses, contractures may also develop at the knees and hips leading to difficulty with wheelchair seating, discomfort while sleeping, and skin ulcers. Stretching exercises may be useful in delaying these contractures. Occasionally, contractures may require surgical correction (i.e., hip flexor-abductor releases, distal hamstring releases).

Scoliosis
Older boys with DMD exhibit scoliosis 90-95% of the time; the age of onset is variable. Trunk muscles progressively weaken, leading to collapse of the spine into a long C-shaped curve. In addition to seating problems and discomfort, scoliosis can lead to respiratory compromise due to decreased lung volume. A spine exam and spine X-rays (sitting anteroposterior spine) should be performed on a routine basis after the age of 10 years or when patients become non-ambulatory. Scoliosis surgery is recommended when the curvature measures 20 to 30 degrees; bracing is not thought to be helpful and is poorly tolerated. Scoliosis correction is major surgery and should be performed before pulmonary or cardiac function is too compromised.

Subspecialist Collaborations & Other Resources

Pediatric Orthopedics (see Services below for relevant providers)

Baseline evaluations and periodic visits with pediatric orthopedics are recommended for the management of contractures and scoliosis.

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

Periodic referrals to physiatry help maximize mobility and activities of daily living.

Hospitals (see Services below for relevant providers)

Shriners Hospitals, where available, provide free orthopedic care to children with DMD.

Mobility/Function/ADLs/Adaptive

Begin thinking about a wheelchair or other mobility device when falls are frequent, the boy is having difficulty getting up from the floor, and/or when limitations on how far he can walk begin restricting participation in family and community life. Some families prefer scooter use early on, while others prefer a lightweight or folding wheelchair or stroller-type wheelchair. Insurance companies may limit wheelchair purchases to one every few years and will sometimes not buy a manual wheelchair after a power chair has been purchased. Therefore, providers and families should order a manual wheelchair when the need first becomes apparent and a power wheelchair when mobility is further compromised. Although the family is sometimes reluctant to get the first wheelchair, the child is often happy to have the increased mobility and independence. Fitting a wheelchair, getting letters of medical necessity (often written by the physical therapist), obtaining insurance preauthorization, and ordering and receiving the wheelchair can take up to 6 months, so the process should be started when the need is first recognized. See Wheelchairs and Adapted Strollers, and Writing Letters of Medical Necessity (general). Sometimes a local resource, such as an MDA Clinic or Shriners Hospital, will have a loan closet of equipment or may be able to find a loaner or permanent wheelchair if the child is at risk while waiting for the wheelchair.

In adolescence and beyond, families will often need additional equipment, including bath chairs, slides, power lifts, and commode systems. Physiatrists and physical and occupational therapists can help determine needs and the best equipment for the family, as well as helping with insurance preauthorization. Sometimes organizations such as the MDA Clinic and Shriners Hospitals will have donated equipment for families without financial resources.

Subspecialist Collaborations & Other Resources

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

If not provided in the neuromuscular clinic, refer to physiatrist and physical and occupational therapists for periodic evaluation of mobility and daily living needs and help with equipment ordering and insurance preauthorization.

Gastro-Intestinal & Bowel Function

For somewhat unclear reasons, individuals with DMD frequently have problems with constipation and bladder continence, including urgency and hesitancy. Because of difficulties surrounding toileting at school, many boys will decrease fluid intake which, in turn, worsens constipation. Boys with DMD should be included in problem-solving toileting issues to increase their comfort and safety and to allow continued adequate fluid intake. Many PM&R doctors and physical and occupational therapists have experience with toileting in individuals with disabilities. Some links for toileting issues in general, toilet training, and treating constipation are:

Subspecialist Collaborations & Other Resources

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

Helpful to evaluate and treat toileting issues in youths and young adults with DMD.

Physical Therapy (see Services below for relevant providers)

For evaluating equipment needs, such as adapted toilets and lifts.

Occupational Therapy (see Services below for relevant providers)

May be helpful for evaluating needs of daily living such as toileting.

Nutrition/Growth/Bone

Diet and Obesity
Nutrition and the prevention of obesity should be discussed early and often. As the child grows and develops, dietary and caloric needs should be routinely evaluated. Obesity, often independent of steroid use, may be seen as early as age 7; its prevalence seems to peak in the early teens at about 54%. [Willig: 1993] Obesity makes movement and activity even more difficult. Undernutrition may also be seen after the age of 14 years due to weakness and incoordination of the muscles used in chewing and swallowing. When possible, involve a nutritionist for underweight or overweight boys.

Exercise
Boys should be instructed to maintain cardiovascular conditioning through activities such as walking and swimming and to begin a program of stretching. Boys with DMD should avoid body-building type exercises, such as weight lifting. It might be necessary to write a note or communicate directly with physical education teachers regarding limitations and exercising.

Osteoporosis
Steroidal use increases risk of osteoporosis. Provide guidelines regarding nutrient intake, especially for Calcium and Vitamin D (general). Daily use of an oral calcium supplement (like calcium carbonate antacids) is an inexpensive way to provide calcium supplements, although excess calcium may lead to kidney stones. If fractures occur in boys with osteopenia, IV or oral bisphosphonate treatment is sometimes recommended by endocrinologists. [Bushby: 2005]

Nutrition
With a history of choking or dysphagia, address swallowing problems and consider silent aspiration, which may further compromise respiratory ability. If adequate nutrition cannot be safely accomplished with oral feedings, gastrostomy tube placement and enteral feedings under guidance of a nutritionist is strongly recommended. See Feeding Tubes and Gastrostomies

Subspecialist Collaborations & Other Resources

Pediatric Endocrinology (see Services below for relevant providers)

Consider a referral if osteoporosis and fractures are present for consideration of bisphosphonate treatment.

Nutrition/Dietary (see Services below for relevant providers)

Periodic visits with a nutritionist can help to avoid/manage nutritional deficits, overweight, and underweight, and to manage calcium intake.

Development (general)

Boys with DMD often present with gross motor and language developmental delays. Although motor milestones are achieved in a delayed manner, the majority of children with DMD walk by 18 months of age. By preschool, they exhibit slower motor skills and are less able to keep up with their peers. They may fall frequently compared to their peers and use the Gowers' maneuver to get up from the floor and handrails to go up stairs. Children with developmental delays should be referred to early intervention programs and receive therapy as indicated.

Subspecialist Collaborations & Other Resources

Early Intervention Programs (see Services below for relevant providers)

Can provide developmental evaluation and intervention in the preschool years.

Developmental Pediatrics (see Services below for relevant providers)

May assist in evaluating and monitoring development, and with tapping helpful community resources and coordinating their interventions.

Learning/Education/Schools

Boys with DMD often have speech and language delays in the preschool years. More recent investigation suggests that older reports of a decreased mean IQ [Anderson: 2002] may have instead reflected problems with short-term verbal memory and executive function. [Hinton: 2001] The learning problems do not worsen as the muscle weakness progresses – for unknown reasons, there may even be improvement. Problems may be noted in processing and retrieval of information, attention deficits, phonological coding problems, and decreased emotional interaction. [Cotton: 2005] A full psychological evaluation, including achievement and IQ testing, is recommended in those with problems in school. All children with DMD should have an Individualized Education Program (IEP) and/or 504 plan to optimize academic goals and support communication, friendship, and recreational activities at school. These should cover:
  • special transportation needs
  • toileting issues
  • class placement (e.g., mainstreaming vs. a special education class)
  • responsibility in case of a school emergency
  • therapy needs
  • physical education restrictions
IEPs are modified as needed and reviewed annually. School progress should be monitored as part of periodic routine clinic visits. For more information, see Education & Schools, as well as the following DMD-specific links: Individuals with BMD do not usually have cognitive problems, or if present, they are not as severe. [Darras: 2008] as those in DMD.

Subspecialist Collaborations & Other Resources

Psychologist, Child-18 (see Services below for relevant providers)

To evaluate and suggest interventions for boys with DMD who are experiencing learning problems.

Neuropsychology (see Services below for relevant providers)

To evaluate and suggest interventions for boys with DMD who are experiencing learning problems.

Dental

Boys with DMD will need an experienced pediatric dentist or a dentist with expertise in children with special health care needs. Dental care should begin early with the aim of preventing problems and maintaining good oral hygiene. Boys with DMD have many reasons to have difficulty with oral hygiene. Jaw muscles may weaken as the disease progresses, leading to increased plaque buildup and dental caries. Orthodontic problems are common and include widening of the jaw and increased spacing between the teeth. As time goes on, boys may not be physically able to bring a toothbrush up and manipulate it for brushing. When necessary, adapted assistive devices should be prescribed, or a caregiver may need to do the brushing. Electric toothbrushes may also be helpful. For more information, see Dental Care for Boys with DMD (Parent Project MD).

Subspecialist Collaborations & Other Resources

Pediatric Dentistry (see Services below for relevant providers)

Dentists who have received training in caring for children with special health care needs as part of their pediatric dentistry fellowship are preferred.

General Dentistry for Children (see Services below for relevant providers)

Dentists who have interest or experience in caring for children with special health care needs are preferred.

Transitions

As boys with DMD approach adolescence, it is important to work with the youth and family to plan the transition to adult life and adult health care. Boys with DMD are living longer with proactive health care and/or steroid treatment and it should be assumed they will reach adulthood. The living situation, after school is completed, needs to be considered – options include home, independent living, a group home, or a nursing-home like environment, depending on medical needs. Vocational and recreational opportunities should be explored by the family. Some boys with DMD will need the family to obtain at least partial guardianship and this should be applied for when the boy turns 18. Financial services may change at age 18 as well, and experts at Medicaid, SSI, and other benefits should be consulted.

In response to increasing awareness of transitional issues, the MDA has initiated a transitions program targeted at adolescent and young adult patients with neuromuscular disease. Goals of the program include empowering patients and families through access to information and services. See the MDA Transitions Center, Transition Issues, and:

Subspecialist Collaborations & Other Resources

Hospice & Palliative Care (see Services below for relevant providers)

Programs can be very helpful for patients and families as debility encroaches on life span; can assist with making key choices regarding interventions and help family members cope.

Wish-granting Organizations (see Services below for relevant providers)

Provide children with serious illness and their families with trips, visits, gifts, and other services, usually on a one-time basis.

Frequently Asked Questions

How can we tell our son about his DMD in a truthful, but not frightening way?

Discussions depth will depend on the age and cognitive level of the boy with DMD and family preferences. Often, discussions need to continue over the years as the boy gains understanding or hears new information. Sometimes, the boy with DMD understands a fair amount without being told; the first step, therefore, is to learn his level of understanding. Attending an MDA camp, where the boy can meet other children with DMD and see boys in various stages, is often helpful. Research in DMD is progressing quickly, discussions should hold hope for the future.

My son is 19 and will be attending community college nearby. He doesn't want to wear diapers and won't/can't get anyone to help him go to the bathroom while he is at school. What can we do?

There are various types of external catheters, used primarily by men with spinal cord injuries. Although many providers worry about the risk of infection and skin irritation/breakdown with these systems, many users are quite satisfied. When seeking a local rehabilitation facility, locate one with expertise in spinal cord injury and ask to set up an appointment with a provider who is familiar with catheter use and side effects.

Issues Related to Duchenne and Becker Muscular Dystrophy

Funding & Access to Care

Writing Letters of Medical Necessity

Resources

Information for Clinicians

DMD Respiratory Care (Consensus Statement, ATS)(PDF Document 102 KB)
New approaches for therapies of respiratory complications in DMD. Covers sleep evaluation, nutrition, cardiac involvement, scoliosis, and corticosteriods. Discusses end-of-life care and the decision to use or not use a respirator; American Thoracic Society.

Dystrophinopathies (GeneReviews)
Detailed overview of the dystrophinopathies, from GeneReviews; supported by the National Library of Medicine and the National Center for Biotechnology Information.

Muscular Dystrophy, Duchenne (OMIM)
Very detailed discussion of DMD, with focus on genetics; Online Mendelian Inheritance in Man, National Center for Biotechnology Information.

Neuromuscular Disease Center
Comprehensive website on neuromuscular diseases; Washington University, authored by Alan Pestronk, MD.

A Physician Guide to Communicating Bad News (AMA)(PDF Document 35 KB)
Part of the Education for Physicians on End of Life Care (EPEC) Project, sponsored by The Robert Wood Johnson Foundation. This handbook outlines six steps to communicating bad news to patients, families, and parents. From the American Medical Association web site.

Helpful Articles

PubMed search on Duchenne muscular dystrophy: review articles over the last 5 years

Bushby K, Bourke J, Bullock R, Eagle M, Gibson M, and Quinby J.
The multidisciplinary management of Duchenne muscular dystrophy.
Current Paediatrics. 2005;15:292-300. / Full Text

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, Weiss RB.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat. 2009;30(12):1657-66. PubMed abstract

Clinical Tools

Growth/BMI Charts

BMI Calculator (KidsHealth)
Simple BMI calculator with instructions and information for after BMI is determined.

Patient Education & Instructions

Diagnosis & Management of DMD - Guide for Families(PDF Document 1.8 MB)
Care standards based on the DMD published in the Lancet Neurology in 2010; contains many images and graphics, uses much ink if printed.

FAQs about Wheelchairs (Parent Project, MD)
Answers to frequently asked questions about wheelchairs.

Information & Support for Families

Family Diagnosis Page

Information on the Web

Duchenne Muscular Dystrophy (MedlinePlus)
MedlinePlus Medical Encyclopedia page with links to reliable information; National Library of Medicine.

Muscular Dystrophy (MedlinePlus)
Health Topic page with numerous links to reliable information; National Library of Medicine.

Duchenne and Becker Muscular Dystrophy (Genetics Home Reference)
Discussion on genetics of two major types of muscular dystrophy; sponsored by the National Library of Medicine.

Learning About DMD (National Human Genome Research Institute)
Information for families with a focus on genetics.

Duchenne/Becker Muscular Dystrophy (CDC)
General information about MD for families that includes references to recent publications, extensive web resources, sites for kids, and genetic research for parents and families. Also includes current surveillance and research sponsored by the CDC to track incidence and treatment; Centers for Disease Control and Prevention.

Muscular Dystrophy (NINDS)
Offers general information for parents, related NINDS publications, and a link to current research literature on MEDLINE; National Institute of Neurological Disorders and Stroke NINDS (Division of NIH).

Consumer guide to hospice
A consumer guide to hospices that participate in Medicare, searchable by State and County.

Support National & Local

Parent Project Muscular Dystrophy
Comprehensive site directed at parents; covers latest research and treatment news, related issues, legislation, resources, and fundraising; site founded by family members of children with DMD.

Muscular Dystrophy Association
Voluntary health agency that supports partnering with scientists, families, and professionals. Offers current research and MDA news, and human interest stories. Under the "Families" tab on this Medical Home Portal site, look for "support groups" and enter your zip code in the left menu for a listing in your area.

Studies/Registries

Research in DMD (PPMD)
Listing and explanation of clinical trials for DMD; Parent Project Muscular Dystrophy; Parent Project Muscular Dystrophy.

Clinical Trials in DMD (clinicaltrials.gov)
List of current clinical trials in Duchenne muscular dystrophy; compiled by ClinicalTrials.gov.

Services for Patients & Families

Assistive Technology

See all Assistive Technology services providers (92) in our database.

Bone Densitometry/DEXA

See all Bone Densitometry/DEXA services providers (3) in our database.

College Disability Centers

See all College Disability Centers services providers (18) in our database.

Developmental Pediatrics

See all Developmental Pediatrics services providers (5) in our database.

Disability Employment

See all Disability Employment services providers (195) in our database.

Disability/Diagnosis-Specific Advocacy

See all Disability/Diagnosis-Specific Advocacy services providers (94) in our database.

Early Intervention Programs

See all Early Intervention Programs services providers (37) in our database.

General Dentistry for Children

See all General Dentistry for Children services providers (146) in our database.

Hospice & Palliative Care

See all Hospice & Palliative Care services providers (72) in our database.

Hospitals

See all Hospitals services providers (59) in our database.

Muscular Dystrophy Clinics

See all Muscular Dystrophy Clinics services providers (1) in our database.

Neuropsychology

See all Neuropsychology services providers (6) in our database.

Nutrition/Dietary

See all Nutrition/Dietary services providers (58) in our database.

Occupational Therapy

See all Occupational Therapy services providers (34) in our database.

Pediatric Cardiology

See all Pediatric Cardiology services providers (1) in our database.

Pediatric Dentistry

See all Pediatric Dentistry services providers (47) in our database.

Pediatric Endocrinology

See all Pediatric Endocrinology services providers (5) in our database.

Pediatric Genetics

See all Pediatric Genetics services providers (3) in our database.

Pediatric Neurology

See all Pediatric Neurology services providers (5) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (5) in our database.

Pediatric Orthopedics

See all Pediatric Orthopedics services providers (3) in our database.

Pediatric Physical Medicine & Rehab

See all Pediatric Physical Medicine & Rehab services providers (6) in our database.

Pediatric Pulmonology

See all Pediatric Pulmonology services providers (5) in our database.

Physical Therapy

See all Physical Therapy services providers (54) in our database.

Psychologist, Child-18

See all Psychologist, Child-18 services providers (143) in our database.

SSI, Supplemental Security Income

See all SSI, Supplemental Security Income services providers (9) in our database.

Social Work

See all Social Work services providers (1) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (50) in our database.

State Disability Agencies

See all State Disability Agencies services providers (47) in our database.

Wish-granting Organizations

See all Wish-granting Organizations services providers (18) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors

Content Last Updated: 12/2013

Bibliography

Anderson JL, Head SI, Rae C, Morley JW.
Brain function in Duchenne muscular dystrophy.
Brain. 2002;125(Pt 1):4-13. PubMed abstract

Bach JR.
Respiratory muscle aids for the prevention of pulmonary morbidity and mortality.
Semin Neurol. 1995;15(1):72-83. PubMed abstract

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL.
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
J Med Genet. 1989;26(9):553-9. PubMed abstract / Full Text

Balaban B, Matthews DJ, Clayton GH, Carry T.
Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect.
Am J Phys Med Rehabil. 2005;84(11):843-50. PubMed abstract

Birnkrant DJ, Bushby KM, Amin RS, Bach JR, Benditt JO, Eagle M, Finder JD, Kalra MS, Kissel JT, Koumbourlis AC, Kravitz RM.
Respiratory management of patients with DMD: A DMD care considerations working group specialty article.
Pediatr Pulmonol. 2010;. PubMed abstract

Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth MK, Sharma GD, Sussman MD.
American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
Chest. 2007;132(6):1977-86. PubMed abstract

Bushby K, Bourke J, Bullock R, Eagle M, Gibson M, and Quinby J.
The multidisciplinary management of Duchenne muscular dystrophy.
Current Paediatrics. 2005;15:292-300. / Full Text

Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C, Druschel CM, Moxley RT.
Delayed diagnosis in DMD: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
J Pediatr. 2009;155(3):380-5. PubMed abstract

Cotton SM, Voudouris NJ, Greenwood KM.
Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: further results from a meta-analysis.
Dev Med Child Neurol. 2005;47(4):257-65. PubMed abstract

Darras, BT, Korf, BR, and Urion, DK.
Dystrophinopathies.
GeneReviews (NIH); (2008) http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbmd.

Dubowitz, Victor.
Muscle Disorders in Childhood.
2nd ed. London: W.B. Saunders Company Ltd; 1995. 0702-014370
This reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories.

Finder JD,Birnkrant D,Carl J,Farber HJ,Gozal D,Iannaccone ST,Kovesi T,Kravitz RM,Panitch H,Schramm C,Schroth M,Scharma G,Sievers L,Silvestri J,Sterni L.
Respiratory Care of the Patient with Duchenne Muscular Dystrophy.
The official statement of the American Thoracic Society; (2004) http://www.parentprojectmd.org/site/DocServer/filename?docID=123.
This statement is designed to educate the practitioner about new approaches to therapies available for the management of the respiratory complications of DMD. In addition to respiratory care, it covers sleep evaluation, nutrition, cardiac involvement, scoliosis and corticosteriods. It also discusses end-of-life care and the decision to use or not use a respirator.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, Weiss RB.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat. 2009;30(12):1657-66. PubMed abstract

Gibson B.
Long-term ventilation for patients with Duchenne muscular dystrophy : physicians' beliefs and practices.
Chest. 2001;119(3):940-6. PubMed abstract

Hayes J, Veyckemans F, Bissonnette B.
Duchenne muscular dystrophy: an old anesthesia problem revisited.
Paediatr Anaesth. 2008;18(2):100-6. PubMed abstract

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E.
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
Clin Genet. 2009;75(5):465-72. PubMed abstract

Hinton VJ, De Vivo DC, Nereo NE, Goldstein E, Stern Y.
Selective deficits in verbal working memory associated with a known genetic etiology: neuropsychological profile of DMD.
J Int Neuropsychol Soc. 2001;7(1):45-54. PubMed abstract / Full Text

Houde S, Filiatrault M, Fournier A, Dubé J, D'Arcy S, Bérubé D, Brousseau Y, Lapierre G, Vanasse M.
Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up.
Pediatr Neurol. 2008;38(3):200-6. PubMed abstract

Ishikawa Y, Bach JR.
Duchenne muscular dystrophy.
Thorax. 1999;54(6):564. PubMed abstract

Manzur AY, Kuntzer T, Pike M, Swan A.
Glucocorticoid corticosteroids for Duchenne muscular dystrophy.
Cochrane Database Syst Rev. 2008;(1):CD003725. PubMed abstract

Markham LW, Kinnett K, Wong BL, Woodrow Benson D, Cripe LH.
Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy.
Neuromuscul Disord. 2008;18(5):365-70. PubMed abstract

Mendell JR, Lloyd-Puryear M.
Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy.
Muscle Nerve. 2013;48(1):21-6. PubMed abstract

Merlini L, Cicognani A, Malaspina E, Gennari M, Gnudi S, Talim B, Franzoni E.
Early prednisone treatment in Duchenne muscular dystrophy.
Muscle Nerve. 2003;27(2):222-7. PubMed abstract

Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, Baumbach L, McDonald C, Sussman M, Wade C.
Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Neurology. 2005;64(1):13-20. PubMed abstract

Quinlivan R, Roper H, Davie M, Shaw NJ, McDonagh J, Bushby K.
Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention.
Neuromuscul Disord. 2005;15(1):72-9. PubMed abstract

Schram G, Fournier A, Leduc H, Dahdah N, Therien J, Vanasse M, Khairy P.
All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy.
J Am Coll Cardiol. 2013;61(9):948-54. PubMed abstract

Simonds AK, Muntoni F, Heather S, Fielding S.
Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy.
Thorax. 1998;53(11):949-52. PubMed abstract / Full Text

Snow WM, Anderson JE, Jakobson LS.
Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review.
Neurosci Biobehav Rev. 2013;37(5):743-52. PubMed abstract

Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM.
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Neuromuscul Disord. 2010;20(8):499-504. PubMed abstract / Full Text

Willig TN, Carlier L, Legrand M, Riviere H, Navarro J.
Nutritional assessment in Duchenne muscular dystrophy.
Dev Med Child Neurol. 1993;35(12):1074-82. PubMed abstract