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Myotonic muscular dystrophy type 1 - Ongoing Assessment
Screening
Screening should be performed on relatives at risk, for instance: siblings, the parent who is thought to be affected, etc. as early diagnosis allows treatment of cardiac abnormalities, diabetes, etc. Screening of individuals with myotonic muscular dystrophy (MMD) for cataracts should be performed depending on the individual's age and severity. Screening for cardiac problems should be performed in all individuals with MMD.Diagnostic Criteria
Diagnosis is made by molecular testing confirming presence of the CTG repeats in the DMPK gene region of chromosome 19.Pearls And Alerts
Individuals with MMD have a higher rate of complications with general anesthesia, even those with only mild manifestations of the disease. Families should be educated about this possibility, and reminded in the course of well child visits. Mothers with mild MMD are also at risk.
Individuals with MMD may have insulin resistance that sometimes develops into diabetes, even in the absence of obesity. However, with the current epidemic of obesity and the emergence of insulin resistance and diabetes type 2 in children, these conditions may become more of a concern in children with MMD.
History And Examination
Interim History
Ask about symptoms of cardiac arrhythmia, dizziness, fatigue, weakness, speech and swallowing problems, drooling, constipation.Developmental and Educational Progress
Assess developmental and educational progress and consider changing current regimen of interventions as needed.Subspecialist Collaborations and Other Resources
Pediatric Cardiology (see Services below for relevant providers)
Consider a baseline visit with cardiology on diagnosis of MMD with periodic followups as suggested by cardiology.
Pediatric Ophthalmology (see Services below for relevant providers)
Children with MMD will require periodic follow-up with ophthalmology.
Resources
Information & Support
For Professionals
Myotonic dystrophy 1 (GeneReviews)
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.
For Parents and Patients
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).
Practice Guidelines
Services
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.
Bellini M, Biagi S, Stasi C, Costa F, Mumolo MG, Ricchiuti A, Marchi S.
Gastrointestinal manifestations in myotonic muscular dystrophy.
World J Gastroenterol.
2006;12(12):1821-8.
PubMed abstract
English KM, Gibbs JL.
Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders.
Dev Med Child Neurol.
2006;48(3):231-5.
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
Authors
| Authors: | Jacinda B Sampson MD, PhD, 5/2010 Lynne M Kerr MD, PhD, 3/2010 |
| Content Last Updated: | 3/2010 |