Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

Gosal, Gurinder S and Shah, Hitesh (2011) Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy. Malaysian Orthopaedic Journal, 5 (1). pp. 61-68.

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congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of firstdegree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

Item Type: Article
Uncontrolled Keywords: Congenital Muscular Dystrophy; Muscle-eye-brain Disease; Walker-Warburg Syndrome; Fukuyama Congenital Muscular Dystrophy.
Subjects: Medicine > KMC Manipal > Orthopaedics
Depositing User: KMC Manipal
Date Deposited: 10 Sep 2013 04:34
Last Modified: 31 Aug 2016 14:01

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