Last update 21 Mar 2024

Myotonic Dystrophy

Basic Info

Synonyms
Atrophica, Myotonia, Atrophicas, Myotonia, CURSCHMANN-BATTEN-STEINERT SYNDROME
+ [136]
Introduction
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

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