Disease - Muscular dystrophy, limb-girdle, autosomal dominant 2
Definition
An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.
Acronym
LGMDD2
Synonyms
LGMD1F
Limb-girdle muscular dystrophy 1F
Muscular dystrophy, limb-girdle, type 1F
Limb-girdle muscular dystrophy 1F
Muscular dystrophy, limb-girdle, type 1F
Keywords
Disclaimer
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