Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Neurol India
;
2006 Sep; 54(3): 293-5
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Masculino
/
Glicoproteínas de Membrana
/
Niño
/
Salud de la Familia
/
Corea
/
Sarcoglicanos
/
Trastornos Mentales
/
Distrofias Musculares
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Neurol India
Año:
2006
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS