Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Neurol India
;
2006 Sep; 54(3): 293-5
Article
in English
| IMSEAR
| ID: sea-120544
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Male
/
Membrane Glycoproteins
/
Child
/
Family Health
/
Chorea
/
Sarcoglycans
/
Mental Disorders
/
Muscular Dystrophies
Type of study:
Diagnostic study
Language:
English
Journal:
Neurol India
Year:
2006
Type:
Article
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