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Myotonic dystrophy (DM) is the most common muscular dystrophy in adults, and is the second most common muscular dystrophy after Duchenne muscular dystrophy.
It is an autosomal dominant genetic disorder Onset is usually in the second or third decade and the life span of affected individuals is typically six decades. A congenital form of DM can occur in second or third generations, however, and can be fatal for affected infants. Characteristics of DM include myotonia, as well as progressive weakening and wasting of the voluntary muscles of the eyes, face, neck, arms and legs. Muscles related to involuntary activities such as swallowing and breathing, as well as those surrounding the internal organs such as the upper and lower digestive tracts may also be affected. The gall bladder, and the uterus may also be affected as the disease progresses in an individual. Other characteristics include cataracts, cardiac conduction abnormalities, cognitive deficits, and frontal balding.
The genetic causes of three forms of DM have been identified:
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Genetic Disorders
Muscular Dystrophies :: Muscle Diseases
Rare Disorders :: Conditions and Diseases
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GeneClinics - A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources.
NINDS Myotonia Information Page - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Myotonia information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
The CaF Directory - An article about myotonic dystrophy, its characteristics and inheritance patterns.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]
