Rigid spine syndrome: case report

Arquivos de Neuro-Psiquiatria

Viviane H. Flumignan ZÉtola²  Rosana HermÍnia Scola²  Salmo Raskin²  Daniel Monte Serrat Prevendello¹  Ylmar Correa Neto²  Lineu Cesar Werneck² 

[1] ,Universidade Federal do Paraná and Genetika Hospital de Clínicas Internal Medicine DepartmentCuritiba,Brazil

关键词: rigid spine syndrome;    merosin;    dystrophin;    síndrome da espinha rígida;    merosina;    distrofina;   

DOI  :  10.1590/S0004-282X1998000500018

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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