Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
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.
Khadilkar
Satish V
SV
Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India. khadilkar@vsnl.com
Menezes
Krishe M
KM
Singh
Rakesh K
RK
Hegde
Madhuri R
MR
D002648:Child; D002819:Chorea / Q000209:etiology*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins; D001523:Mental Disorders / Q000209:etiology*; D009136:Muscular Dystrophies / Q000150:complications / Q000503:physiopathology; D049031:Sarcoglycans
D008562:Membrane Glycoproteins; D049031:Sarcoglycans