Rigid spine syndrome. Case report.
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 immunofluorescence 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.
Zétola
V H
VH
Internal Medicine Department, Hospital de Clínicas da Universidade Federal do Paraná and Genetika, Curitiba, Brazil.
Scola
R H
RH
Raskin
S
S
Prevendello
D M
DM
Correa Neto
Y
Y
Werneck
L C
LC
D002648:Child; D016189:Dystrophin / Q000032:analysis* / Q000235:genetics; D004576:Electromyography; D006801:Humans; D007797:Laminin / Q000032:analysis*; D008297:Male; D009127:Muscle Rigidity / Q000175:diagnosis*; D016133:Polymerase Chain Reaction; D013122:Spinal Diseases / Q000175:diagnosis*; D013577:Syndrome
D016189:Dystrophin; D007797:Laminin