[A case of suspected Machado-Joseph disease? (Case report for discussion)].
The reported case had extrapyramidal signs and sensorimotor peripheral neuropathy, and it seems to be a genetic disorder separate from the Machado-Joseph disease. Abnormalities of CSF were found, and EMG showed a sensorimotor neuropathy. MRI of the brain demonstrated hypodense lesions in the lentiform nucleus of the left hemisphere.
Stepień
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Kliniki Psychoneurologicznej WIML.
D000328:Adult; D002552:Cerebral Ventricles / Q000503:physiopathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003342:Corpus Striatum / Q000503:physiopathology; D003937:Diagnosis, Differential; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis*; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed
Czy choroba Machado-Josepha? (Przypadek do dyskusji).