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Myotonic muscular dystrophy type 1 - Treatment & Management

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Overview

Myotonic muscular dystrophy (MMD) is a chronic illness that can be managed over time.

Primary Care Roles

In addition to a place where a child with MMD can go with an acute illness, a child with MMD needs a Medical Home for well-child and chronic care visits, where progress and problems can be reviewed and acted upon in a proactive manner. In addition, a child with MMD may need access to a number of subspecialists and the Medical Home should be the initiator and coordinator of these visits with input from the family. The goal is to have the child see the subspecialists needed but to avoid duplication of services or unnecessary appointments.

Pearls And Alerts

Vecuronium, an anesthetic agent, should be avoided in individuals with MMD. If surgery is needed in a child with MMD, the anesthesiologist should be made aware of possible anesthetic complications. Children and adults with MMD are very slow to regain airway protection reflexes after anesthesia.

Statins should be avoided in individuals with MMD as they may lead to increasing muscle weakness and pain, although there are no clinical trials showing safety of statins in MMD.

Practice Guidelines

There are no practice guidelines for the ongoing management of MMD.

Systems

Development (general)

Global developmental delay is almost universal in children with congenital MMD. Developmental therapies starting with early intervention from 0 to 3 years of age, with transitions to special education preschool and school as needed, are recommended to start as soon as the diagnosis is made. In some cases, supplemental private therapies such as physical, occupational, feeding, and/or speech therapy may also be necessary.

Subspecialist Collaborations and Other Resources

Early Intervention Programs (see Services below for relevant providers)

Early intervention programs for children 0 to 3 years of age are available in all 50 states. Depending on the services offered to the child in this program, supplemental therapies may be necessary.

Preschool/Early Childhood Education (see Services below for relevant providers)

Children with MMD will generally require special education preschools. The family can be instructed to call their local school or school district office for information on enrolling. If the child has been in Early Intervention, transition to preschool will be part of the process.

School Districts (see Services below for relevant providers)

Families can call either their local school or school district office for information on enrolling their child in special education preschool for children with developmental delays.

Physical Therapy (see Services below for relevant providers)

Physical therapy may be helpful for strengthening of muscle weakness, dealing with the fatigue in MMD, and the need for standers, walkers, wheelchairs, etc.

Occupational Therapy (see Services below for relevant providers)

Occupational therapists will work with the child with delays to enhance his or her ability to perform activities of daily living such as eating, dressing, etc. In some areas, occupational therapists may work with children with swallowing or other problems involved in eating.

Speech/Language Therapy (see Services below for relevant providers)

Speech therapists may be useful to help with language delays and speech and swallowing problems, including drooling. Speech therapists may work with children with eating problems, depending on local expertise.

Musculoskeletal

Children with congenital MMD need monitoring for progression of muscle weakness and contractures. Contractures of heels, knees and hips can occur over time, and the Medical Home provider should monitor for these or have the child see orthopedics on a periodic basis. About 30% of adolescents with MMD demonstrate scoliosis, and in some cases, surgery may be necessary. [Canavese: 2009] If muscle weakness is present, consider suggesting a disability placard for the family car to minimize fatigue.

Subspecialist Collaborations and Other Resources

Pediatric Neurology (see Services below for relevant providers)

Depending on local availability, periodic visits with pediatric neurology to monitor weaknes and developmental issues are recommended.

Muscular Dystrophy Clinics (see Services below for relevant providers)

Neurology followup may be available at specialized Muscle Clinics.

Pediatric Orthopedics (see Services below for relevant providers)

Consider a baseline visit with pediatric orthopedics with follow-ups as deemed necessary.

Pediatric Orthopedics (see Services below for relevant providers)

Shriners Hospitals may be useful for children with orthopedic needs including contractures and scoliosis.

Mobility/Function/ADLs/Adaptive

Depending on the severity of the MMD, mobility may be significantly affected because of global developmental delays and/or muscle weakness. Positional aides may be necessary if the child isn't sitting by him/herself; a corner chair, tumble form or wheelchair may be used to allow the child to be in a seated position for feeding and for optimal hand use during play and activities of daily living. Braces and splints may be used to prevent deformity and to provide support or protection. These may be prescribed for use during the day or night to provide stretch and optimal positioning across joints. Standers and/or walkers may be necessary to allow standing (weight bearing may help prevent osteoporosis, allow full lung expansion, stretches hamstrings, and allow children to be on-level with peers) and supported walking (for children requiring help with balance and support for walking).

Subspecialist Collaborations and Other Resources

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

Children with developmental delays and functional impairments may benefit from a PM&R consult

Pediatric Orthopedics (see Services below for relevant providers)

Children with joint contractures and/or scoliosis may be managed concurrently with pediatric orthopedics.

Physical Therapy (see Services below for relevant providers)

Physical therapy may be helpful for children with decreased mobility.

Occupational Therapy (see Services below for relevant providers)

Occupational therapy may be helpful for children with functional impairments in carrying out activities of daily living.

Sleep

Adults with MMD often find they need much more sleep than other people do and they get tired very easily. This same fatigue can be observed in infants and children with MMD, although it may manifest as a need to take naps frequently past the usual age of napping. In addition to skeletal muscle weakness, respiratory muscles may be weak, adding to fatigue with activity. Consider suggesting a disability placard for the family's car to help with energy conservation; even if the child is only going to run around at a park, the child should conserve energy to get to the play area.
Sleep apnea (either central or obstructive) may also contribute to fatigue in some children. In older children and adults, daytime sleepiness may sometimes by treated with medications, including stimulants and modafinil (Provigil). In younger children, a behavioral approach may help; the family should control bedtime and wakeup time and plan for a scheduled nap. If sleepiness continues, or if there are concerns about restless leg or breathing abnormalities during sleep, consider referring to a sleep specialist.

Subspecialist Collaborations and Other Resources

Pediatric Sleep Medicine (see Services below for relevant providers)

A sleep medicine consult may be helpful for children with suspected sleep problems including frequent awakening, snoring, and excessive daytime sleepiness. Therapies may include medications, adenoidectomy/tonsillectomy (by ENT), and/or CPAP.

Cardiology

Individuals with MMD may have conduction problems and arrhythmias that can be life-threatening. Although it is not known what age these first occur, children with MMD have had demonstrated arrhythmias at age 10, particularly during exercise. A visit to a cardiologist on diagnosis with re-consultations as needed, and with consideration of exercise testing, is recommended. Annual EKGs are also recommended to detect asymptomatic arrhythmias. [Bassez: 2004]

Subspecialist Collaborations and Other Resources

Pediatric Cardiology (see Services below for relevant providers)

A baseline visit with pediatric cardiology at diagnosis and then periodic reevaluations as necessary are recommended. As adolescence approaches, these visits may need to become more frequent.

Eyes/Vision

Strabismus and ptosis, sometimes requiring surgery, are very common in children with congenital MMD1. Children should be referred to an ophthalmologist at diagnosis and then as necessary for reevaluation. Cataracts don't typically appear until adolescence, but will need to be monitored for on an annual basis.

Subspecialist Collaborations and Other Resources

Pediatric Ophthalmology (see Services below for relevant providers)

Periodic visits with a pediatric ophthalmologist starting at diagnosis are recommended.

Respiratory

Respiratory muscle weakness can be life-threatening in infants with congenital MMD1. Although some infants may require mechanical ventilation for a prolonged period, there is usually improvement over time. However, children with MMD1, especially those with swallowing problems, are at an increased risk for pneumonias and other respiratory illnesses. Influenza, H1N1, and pneumococcal vaccines should be administered as necessary. Families should be reminded to seek oseltamivir phosphate (Tamiflu) during flu season at onset of flu-like symptoms.

Gastro-Intestinal & Bowel Function

Gastroesophageal reflux is very common, although it might present as arching, irritability, or food refusal rather than vomiting. Treatment can be started empirically (see Gastroesophageal reflux (general) for details of evaluation and treatment) with evaluation and/or a referral to gastroenterology if symptoms continue. Treatment is generally initiated with lansoprazole, a proton pump inhibitor. Treatment of reflux can be augmented by the use of a motility agent (metoclopromide or low dose erythromycin) or H2 blocker but the clinician must monitor closely for side effects (particularly irritability or dystonia with metoclopromide). If medical therapy is not successful or, despite optimal treatment of reflux, the child remains underweight, a Nissen or other type of fundoplication may be necessary.

Constipation is a problem in many, if not most, children with MMD. Constipation is easier to treat if caught early, and bowel history should be part of every Medical Home visit. Dietary management might be all that is necessary, with additions of juices and fiber, but many children will need daily treatment with laxatives (PEG 3350, Miralax and Glycolax). Also see Constipation treatment (general), Bowel management parent information (general), and You can poop too program. Tools that might be helpful include: Bowel management (general) (PDF Document 74 KB) , Constipation evaluation tool (PDF Document 84 KB) , Bowel management algorithm (PDF Document 47 KB) , and the Home toileting record (PDF Document 49 KB) .

Subspecialist Collaborations and Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

Consider a referral to gastroenterology for constipation, reflux, and/or failure to gain adequate weight that are resistant to usual management.

Nose/Throat/Mouth/Swallowing

Swallowing dysfunction Swallowing dysfunction may result in: drooling, salivary pooling, malnutrition, and/or pulmonary aspiration. A speech therapist (or in some locations an occupational therapist) can evaluate swallowing function and safety, determine if interventions (e.g., speech therapy, special feeding techniques, improved feeding position) might lead to improvements in function, and determine the safest and most efficient textures for eating. In some cases, the therapist may suggest a fluoroscopic video swallow study (also called a modified barium or cookie swallow). If dysphagia is determined to be a problem, diets using pureed foods and thickened liquids may be necessary to prevent aspiration. See Thickening Liquids and Pureeing Foods (general). Children with significant swallowing problems may need gastrostomy tube placement to allow efficient and safe liquid and/or food delivery. A gastrostomy tube may also be necessary in those children with severe failure to thrive, even if aspiration is not an obvious problem. In some children, placement of a feeding tube might be thought of as a temporary intervention so that the family may focus on the child and the quality of his/her eating without worrying constantly about the number of calories the child has received. In the child with GERD and limited capacity to protect his/her airway, treatment with a Nissen fundoplication may be important. Also see Aspiration/Chronic Lung Disease (general) for more information.

Drooling Many parents will choose not to treat drooling due to concerns about the side effects of medication and surgery, but drooling in the socially aware older child can be very embarrassing to the child and create a social barrier. Possibilities for treatment include medications to decrease saliva, and botulinum toxin treatments, which are temporary, or surgery, to block salivary ducts. See Drooling (general) for resources and information about specific treatments.

Subspecialist Collaborations and Other Resources

Pediatric Otolaryngology (see Services below for relevant providers)

Children with drooling, excessive snoring, and/or swallowing problems may benefit from ENT.

Maturation/Sexual/Reproductive

Males with MMD1 may be hypogonadotrophic and may require testosterone supplementation to achieve secondary sexual characteristics. They may also be infertile but this should not be assumed.

Females with MMD1 who become pregnant should understand that their child has a 50/50 risk of being born with congenital MMD1 in a more severe form than exhibited in the mother. Pregnancies of mothers with congenital MMD1 should be managed by a high-risk obstetrician, usually with birth planned for a tertiary care NICU. Labor may be prolonged, and there is an increased risk of retained placenta and hemorrhage. The woman may have polyhydramnios and she may note that fetal movements are decreased.

Dental

Children with MMD1 have increased caries, plaque, and gingivitis compared to typically developing children. This may be due to mouth muscle and tongue weakness, decreased jaw opening, salivary pooling, reflux, and behavior problems interfering with oral hygiene. Early preventative care with frequent follow-ups as necessary are recommended. For many children with congenital MMD1, sedation or anesthesia may be necessary for cleaning and/or dental work. [Engvall: 2009]

Subspecialist Collaborations and Other Resources

Pediatric Dentistry (see Services below for relevant providers)

Pediatric dentists who have training in dealing with children with special health care needs may be necessary in some children.

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

Dentists on this list have expressed an interest in treating children with special health care needs although they do not have formal training.

Mental Health/Behavior

The IQ of children with congenital MMD1 is lower than the mean, in the moderate to borderline range, and is inversely correlated with the number of CTG repeats. Attention deficit hyperactivity disorder (ADHD), learning disabilities, and anxiety disorder are frequently observed. Children may benefit from full psychological or neuropsychological evaluation to clarify strengths and weaknesses and guide educational interventions. Verbal IQ tends to be higher than performance IQ. Most children with congenital MMD1 will need significant developmental and educational support. Some children may benefit from stimulants for attention problems. [Douniol: 2009] [Ekström: 2009] [Angeard: 2007]

Behavior issues may also be a concern over time. Although not much is known, certain behavioral traits may constitute a behavioral phenotype in individuals with MMD. [Delaporte: 1998]

Subspecialist Collaborations and Other Resources

Developmental Pediatrics (see Services below for relevant providers)

A full developmental evaluation of a child with global developmental delays may be helpful.

Neuropsychology (see Services below for relevant providers)

Children may benefit from a full neuropsychological profile to identify strengths and weakness in IQ, processing, etc. to best guide educational goals and methods.

Genetics

If the family has questions about the genetics of MMD1 or if family counseling is needed for a teen, consider a re-evaluation with genetics. Genetic counseling for teens with congenital MMD1 will be offered on a developmentally appropriate basis.

Subspecialist Collaborations and Other Resources

Pediatric Medical Genetics (see Services below for relevant providers)

Genetic consultation is recommended at diagnosis and periodically for individuals with MMD.

Nutrition/Growth/Bone

Children with congenital MMD1 may have a combination of swallowing problems, constipation, and gastroesophageal reflux disease that lead to malnutrition. Careful monitoring of growth and weight gain in children with congenital MMD is critical. Interventions may include optimizing oral feeding, addition of oral caloric supplements, NG/NJ feeding, and placement of a permanent feeding tube. The Medical Home should ensure that treatment of dysphagia, gastroesophageal reflux disease (GERD), delayed gastric emptying, and constipation is optimized. Intervention should be tailored to the child's needs and family-centered. See Power Packing (general) for information on increasing calories in the child's diet.

Subspecialist Collaborations and Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

Children with difficulty swallowing, poor weight gain, and intractable reflux or constipation may benefit from a consultation with pediatric gastroenterology.

Nutrition/Dietary (see Services below for relevant providers)

A visit with a nutritionist may be helpful for children with difficulty gaining weight.

Funding & Access to Care

Funding: See Prescription Assistance Programs (general), Formula Funding (general), Services for the uninsured or under-insured (general), Supplemental Security Income (SSI) (general), Over-the-Counter Drug list, Medicaid, Utah, 2006 (PDF Document 41 KB) , Appealing Funding Denials (general), and Resources (below).

L ife planning: Although children with MMD in special education will be served by the school system until they turn age 22, planning for life after school should be started in early adolescence, including consideration of vocational training and where the child will live (by themselves, in a group home, etc). If necessary, guardianship needs to be applied for. This can be a lengthy process including psychological and medical evaluations of the child and the involvement of a lawyer with expertise in this area. Guardianship should be applied for when the child reaches 18 years of age. In some states, children become eligible for Medicaid based on their own financial resources and ability to work at age 18 and may qualify for resources with the Division of Services for People with Disabilities (DSPD) they might have been ineligible for (based on family income) before their 18th birthday. See Guardianship (general), and Life Planning (general).

Recreation & Leisure

Many children with disabilities benefit from participation in leisure and sports activities. The Medical Home provider can foster this participation by including these activities as part of management for a child with a chronic condition. The need for adapted Physical Education and/or supports or social structuring on the playground should be included in the child's IEP. A Physical Therapy consultation can be helpful either in the school situation or for home adaptations (e.g., the child who wants a bike for a present but the parents don't know what to purchase, or the child is interested in obtaining a sporting wheelchair.) Also see Adapted Toys.

Adapted Athletic Programs: Community-based athletic programs are an option for many children if the family, child, and program are given adequate support. Not only can athletic activities enhance psychological health, but as the child grows, they can help counter a drop off in gross motor function in part due to de-conditioning. Success depends upon the appropriate choice of activities, adapted equipment, adapted rules for the special needs child when appropriate, and support from peers, other parents, and coaches.

Also see Recreational Activities for CSHCN 2008 (PDF Document 115 KB) and Resources (below).

Transitions

Transition refers to the process of moving from the pediatric health care and educational environment to the adult health care system and occupational environment. Successful transition should be fostered for children of all abilities from the very beginning through activities that give the message of expectation, responsibility, and value. See Age specific activities to support transition to adulthood (PDF Document 27 KB) (This site also has a helpful checklist for the front of the chart to remind clinicians/nursing to encourage and model transition supporting activities.) See also Transitions fact sheet (National Alliance to Advance Adolescent Health), [American: 2000], and the Medical Home Portal's Transition sections, Navigating Transitions With Your Child and Transition to Adulthood.

Resources

Information & Support

For Professionals

MMD (Genome.gov)

Myotonic muscular dystrophy (OMIM)
From the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Myotonic dystrophy 1 (GeneReviews)

For Parents and Patients

Support

Myotonic Dystrophy Foundation

Muscular Dystrophy Association

General

Myotonic dystrophy (Genetics Home Reference)
Information for patients/families from Genetics Home Reference, sponsored by the National Library of Medicine

Facts about myotonic muscular dystrophy (MDA)
Excellent overview of myotonic muscular dystrophy written for the family/patient, on the Muscular Dystrophy Association site (www.mdusa.org).

Tools

Bowel management (general) (PDF Document 74 KB)
General information on bowel function and management of constipation for families and providers.

Bowel management algorithm (PDF Document 47 KB)
Algorithm for management of chronic constipation developed in collaboration with pediatric gastroenterology.

Constipation evaluation tool (PDF Document 84 KB)
Provides a format for evaluation of chronic constipation in children.

Home toileting record (PDF Document 49 KB)
An easy-to-use form for keeping track of a child's toileting habits.

Services

Developmental Pediatrics

See all Developmental Pediatrics services providers (2) in our database.

Early Intervention Programs

See all Early Intervention Programs services providers (36) in our database.

General Dentistry for CSHCN

See all General Dentistry for CSHCN services providers (120) in our database.

Muscular Dystrophy Clinics

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

Neuropsychology

See all Neuropsychology services providers (5) in our database.

Nutrition/Dietary

See all Nutrition/Dietary services providers (46) in our database.

Occupational Therapy

See all Occupational Therapy services providers (27) in our database.

Pediatric Cardiology

See all Pediatric Cardiology services providers (2) in our database.

Pediatric Dentistry

See all Pediatric Dentistry services providers (17) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (2) in our database.

Pediatric Medical Genetics

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

Pediatric Neurology

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

Pediatric Ophthalmology

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

Pediatric Orthopedics

See all Pediatric Orthopedics services providers (2) in our database.

Pediatric Otolaryngology

See all Pediatric Otolaryngology services providers (9) in our database.

Pediatric Physical Medicine & Rehab

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

Pediatric Sleep Medicine

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

Physical Therapy

See all Physical Therapy services providers (31) in our database.

Preschool/Early Childhood Education

See all Preschool/Early Childhood Education services providers (28) in our database.

School Districts

See all School Districts services providers (19) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (35) in our database.

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

Helpful Articles

PubMed search for articles on Myotonic Dystrophy in children for the last 5 years.

Sjögreen L, Engvall M, Ekström AB, Lohmander A, Kiliaridis S, Tulinius M.
Orofacial dysfunction in children and adolescents with myotonic dystrophy.
Dev Med Child Neurol. 2007;49(1):18-22. PubMed abstract

Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts ACh.
Strength training and aerobic exercise training for muscle disease.
Cochrane Database Syst Rev. 2010;(1):CD003907. PubMed abstract

Annane D, Moore DH, Barnes PR, Miller RG.
Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy.
Cochrane Database Syst Rev. 2006;3:CD003218. PubMed abstract

Féasson L, Camdessanché JP, El Mandhi L, Calmels P, Millet GY.
Fatigue and neuromuscular diseases.
Ann Readapt Med Phys. 2006;49(6):289-300, 375-84. PubMed abstract

Douniol M, Jacquette A, Guilé JM, Tanguy ML, Angeard N, Héron D, Plaza M, Cohen D.
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
Eur Child Adolesc Psychiatry. 2009;18(12):705-15. PubMed abstract

Authors

Authors: Lynne M Kerr MD, PhD, 3/2010
Jacinda B Sampson MD, PhD, 5/2009
Content Last Updated: 3/2010

Page Bibliography

American Academy of Pediatrics Committee on Children With Disabilities.
The role of the pediatrician in transitioning children and adolescents with developmental disabilities and chronic illnesses from school to work or college. American Academy of Pediatrics. Committee on Children With Disabilities.
Pediatrics. 2000;106(4):854-6. PubMed abstract
A good overview of the process, the players and the physician's role.

Angeard N, Gargiulo M, Jacquette A, Radvanyi H, Eymard B, Héron D.
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?.
Neuromuscul Disord. 2007;17(6):451-8. PubMed abstract

Bassez G, Lazarus A, Desguerre I, Varin J, Laforêt P, Bécane HM, Meune C, Arne-Bes MC, Ounnoughene Z, Radvanyi H, Eymard B, Duboc D.
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1.
Neurology. 2004;63(10):1939-41. PubMed abstract

Canavese F, Sussman MD.
Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence.
J Pediatr Orthop. 2009;29(2):208-13. PubMed abstract

Delaporte C.
Personality patterns in patients with myotonic dystrophy.
Arch Neurol. 1998;55(5):635-40. PubMed abstract

Douniol M, Jacquette A, Guilé JM, Tanguy ML, Angeard N, Héron D, Plaza M, Cohen D.
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
Eur Child Adolesc Psychiatry. 2009;18(12):705-15. PubMed abstract

Ekström AB, Hakenäs-Plate L, Tulinius M, Wentz E.
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.
Dev Med Child Neurol. 2009;51(12):982-90. PubMed abstract

Engvall M, Sjögreen L, Kjellberg H, Robertson A, Sundell S, Kiliaridis S.
Oral health status in a group of children and adolescents with myotonic dystrophy type 1 over a 4-year period.
Int J Paediatr Dent. 2009;19(6):412-22. PubMed abstract