Myotonic dystrophy
Synopsis

Myotonic dystrophy type 1 has distal weakness, with myotonia prominent in the hands; type 2 has proximal muscle weakness (also called PROMM or proximal myotonic myopathy). The signs and symptoms of myotonic dystrophy typically manifest in the third or fourth decade, although they can occur at any age.
Congenital myotonic dystrophy can occur in neonates born to affected mothers. These children have a severe phenotype with prominent weakness, hypotonia, skeletal abnormalities, feeding difficulties, and respiratory distress at birth.
Codes
G71.11 – Myotonic muscular dystrophy
SNOMEDCT:
77956009 – Steinert myotonic dystrophy syndrome
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Last Updated:01/20/2022