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Year : 2002  |  Volume : 50  |  Issue : 1  |  Page : 27--32

Sarcoglycanopathies : a report of 25 cases.


Department of Neurology, Sir JJ Group of Hospitals and Grant Medical College, Mumbai, 400020, India., India

Correspondence Address:
S V Khadilkar
Department of Neurology, Sir JJ Group of Hospitals and Grant Medical College, Mumbai, 400020, India.
India
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Source of Support: None, Conflict of Interest: None


PMID: 11960147

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Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscle involvement in lower limbs was seen in 92% of cases, but was mild and late in the course of the disease. 44% patients had winging of scapulae. Immunocytochemistry showed multiple sarcoglycan deficiencies in 84% patients. Primary beta and delta sarcoglycanopathy was seen in the remaining 16% cases. Secondary dystrophin reduction was seen in 44% patients and correlated with beta sarcoglycan deficiency but not with functional disability.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow