Medknow Publications on behalf of the Neurological Society of India
Vol. 54, No. 3, 2006, pp. 293-295
Bioline Code: ni06094
Full paper language: English
Document type: Research Article
Document available free of charge
Neurology India, Vol. 54, No. 3, 2006, pp. 293-295
© Copyright 2006 Neurology India.
Case Report - Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea|
Khadilkar Satish V, Menezes Krishe M, Singh Rakesh K, Hegde Madhuri R
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additionally had static mental subnormality and choreiform movements. Work-up for sarcolgycan genes, dystrophin gene and known causes of mental retardation and chorea was normal.
Chorea, mental subnormality, muscular dystrophy
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