Myotonic dystrophy
| Myotonic dystrophy | |
|---|---|
| Synonyms | dystrophia myotonica, myotonia atrophica, myotonia dystrophica |
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| 40-year-old with myotonic dystrophy who presented with muscle wasting, bilateral cataracts, and complete heart block | |
| Classification and external resources | |
| Specialty | Medical genetics, pediatrics |
| ICD-10 | G71.1 |
| OMIM | 160900 602668 |
| DiseasesDB | 8739 |
| MeSH | D009223 |
| GeneReviews | |
| Orphanet | 206647 |
Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and are unable to relax. Other symptoms may include cataracts, intellectual disability, and heart conduction problems. In men there may be early balding and an inability to have children.
Myotonic dystrophy is an autosomal-dominant disorder which is typically inherited from a person's parents. There are two main types: type 1 (DM1) due to mutations in the DMPK gene and type 2 (DM2) due to mutations in the CNBP gene. The disorder generally worsens in each generation. A type of DM1 may be apparent at birth. DM2 is generally milder. They are types of muscular dystrophy. Diagnosis is confirmed by genetic testing.
There is no cure. Treatments may include braces or wheelchairs, pacemakers, and non invasive positive pressure ventilation. The medications mexiletine or carbamazepine are occasionally helpful. Pain if it occurs may be treated with tricyclic antidepressants and nonsteroidal anti inflammatory drugs (NSAIDs).
Myotonic dystrophy affects more than 1 in 8,000 people worldwide. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. It is the most common form of muscular dystrophy that begins in adulthood. It was first described in 1909 with the underlying cause of type 1 determined in 1992.
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