Myotonic dystrophy, Causes, Signs and Symptoms, Diagnosis and Treatment.

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Chapters

0:00 Introduction
1:13 Causes of Myotonic dystrophy
2:37 Symptoms of Myotonic dystrophy
3:42 Diagnosis of Myotonic dystrophy
4:14 Treatment of Myotonic dystrophy






Myotonic dystrophy is a type of muscular dystrophy, a group of long-term genetic disorders that impair muscle function.[1] Symptoms include gradually worsening muscle loss and weakness.[1] Muscles often contract and are unable to relax.[1] Other symptoms may include cataracts, intellectual disability and heart conduction problems.[1][2] In men, there may be early balding and an inability to have children.[1]

Myotonic dystrophy is typically inherited from a person's parents, following an autosomal dominant inheritance pattern.[1] 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.[1] The disorder generally worsens in each generation.[1] A type of DM1 may be apparent at birth.[1] DM2 is generally milder.[1] Diagnosis is confirmed by genetic testing.[2]

There is no cure.[3] Treatments may include braces or wheelchairs, pacemakers and non-invasive positive pressure ventilation.[2] The medications mexiletine or carbamazepine are occasionally helpful.[2] Pain, if it occurs, may be treated with tricyclic antidepressants and nonsteroidal anti-inflammatory drugs (NSAIDs).[2]

Myotonic dystrophy affects more than 1 in 8,000 people worldwide.[1] While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s.[1] It is the most common form of muscular dystrophy that begins in adulthood.[1] It was first described in 1909, with the underlying cause of type 1 determined in 1992.[2]