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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
Vol. 57, No. 1, 2009, pp. 41-45
Bioline Code: ni09010
Full paper language: English
Document type: Research Article
Document available free of charge

Neurology India, Vol. 57, No. 1, 2009, pp. 41-45

 en Ullrich congenital muscular dystrophy: Report of nine cases from India
Nalini, A.; Gayathri, N. & Santosh, Vani


Background: Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy.
Materials and Methods: We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics and the histopathological findings.
Results: There were eight boys and one girl child with classical features of severe muscle weakness, prominent proximal contractures, distal hyperlaxity and prominent calcanei. Immunohistochemistry for Collagen VI A1 done on seven cases showed total absence of labeling in six while sarcolemmal-specific deficiency was noted in one case confirming the diagnosis of UCMD. Interestingly, all our patients were noted to have near total absence of major palmar and plantar creases, and instead there were fine mesh-like lines in addition to the soft velvety skin on the palms and soles suggestive of altered collagen arrangements in the skin. Hitherto, this clinical finding has not been described in UCMD in the English literature.

Collagen VI, Col6A, Ullrich congenital muscular dystrophy

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