|
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur.
|
|
|
1. |
GeneClinics
-
A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources.
|
|
|
2. |
NINDS Myotonia Information Page
-
Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
|
|
|
3. |
The CaF Directory
-
An article about myotonic dystrophy, its characteristics and inheritance patterns.
|
|
|
4. |
NCBI: Genes and Diseases
-
A discussion about myotonic dystrophy, when it occurs, symptoms and the gene.
|
|
|
