Disease - Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue
Definition
An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue.
Acronym
MDRCMTT
Synonyms
LGMD2W
Limb-girdle muscular dystrophy 2W
Muscular dystrophy, limb-girdle, type 2W
Limb-girdle muscular dystrophy 2W
Muscular dystrophy, limb-girdle, type 2W
Keywords
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