Rigid spine syndrome: case report
Arq. neuropsiquiatr
;
56(4): 812-8, dez. 1998. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-226024
ABSTRACT
We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Doenças da Coluna Vertebral
/
Distrofina
/
Laminina
/
Rigidez Muscular
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
1998
Tipo de documento:
Artigo
País de afiliação:
Brasil
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