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limb-girdle muscular dystrophy

   Also found in: Medical, Acronyms, Wikipedia 0.01 sec.
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Noun1.limb-girdle muscular dystrophy - an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome


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Zoe Hallam, 18, who has limb-girdle muscular dystrophy, said: "In a process that is already complicated for any student, the additional restrictions placed on disabled people can make it a real challenge to go to university.
Dysferlinopathy is a rare form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by deficiency of the dysferlin protein.
The researchers point out that limb-girdle muscular dystrophy actually describes more than 19 disorders that occur because patients have a faulty alpha-sarcoglycan gene.
 
 
 
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