Dystrophia myotonica

Introduction: Dystrophia myotonica

Description of Dystrophia myotonica

Dystrophia myotonica (medical condition): A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts...more »

Dystrophia myotonica: 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. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)
Source: Diseases Database

Dystrophia myotonica: Related Topics

These medical condition or symptom topics may be relevant to medical information for Dystrophia myotonica:

Dystrophia myotonica: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Dystrophia myotonica is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Dystrophia myotonica, or a subtype of Dystrophia myotonica, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)