Muscular Dystrophies, Limb-Girdle

Source:http://linkedlifedata.com/resource/umls/id/C0686353

JABL: A progressive disorder involving pelvic and scapular girdle muscles marked by weakness of proximal muscles of hip and shoulder areas with variable psychiatric disorders and occasional mild mental retardation. Type IA (LGMD1A) Synonym: proximal limb-girdle muscular dystrophy type 1A A slowly progressive form of muscular dystrophy affecting the proximal limb muscles but sparing the face. (159000) Type IB (LGMD1B) Synonym: proximal limb-girdle muscular dystrophy type 1B A slowly progressive form of muscular dystrophy differing from LGMD1A by the nasal quality of speech. (OMIM 159001) Type 2 (LGMD2, LGMD2A) Synonyms: Leyden-Mobius syndrome distal muscular dystrophy pelvofemoral muscular dystrophy pelvofemoral syndrome tibial muscular dystrophy Muscular dystrophy involving first the pelvic or, less commonly, shoulder girdle with occasional pseudohypertrophy of the calves with onset usually in childhood but sometimes in later stages of life. Muscle wasting tends to be asymmetric when the upper limbs are first

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