pediatrics
Myotonic Dystrophy
Symptoms and Signs of Myotonic Dystrophy
Symptoms and signs of myotonic dystrophy begin during adolescence or young adulthood and include myotonia (delayed relaxation after muscle contraction, which may be asymptomatic or described as muscle stiffness), weakness and wasting of distal limb muscles (especially in the hand and foot, leading sometimes to footdrop) and facial muscles (ptosis is especially common), and cardiomyopathy. Intellectual disability, cataracts, and endocrine disorders can also occur. Men may have small testes. Both men and women may have premature frontal balding. Because of involuntary muscle involvement, patients with DM1 may also have dysphagia and constipation; uterine muscle abnormalities may cause problems for women during labor and delivery. 