[Hereditary ataxia and sensory-motor neuropathy].
The authors presented this case because of the determined characteristics in the clinical picture and electrophysiologic finding which refer to spinocerebral degeneration and neuropathia of the hereditary type, and give the possibility of the classification into two nosologic entities. One is Roussey Levy's syndrome, what is the advisable diagnosis of our patient, and another Freidreich's ataxia. Regardless to the impossibility of the establishing of diagnosis by means the specific enzimatic and genetic tests, the authors on the basis of the clinical picture, electromioncurographic findings and data from the literature of the diagnostic ally decided for Freidreich's ataxya. The neuropathy have classified into the hereditary motor sensor neuropathy--HMSN type II and presented its characteristics.
Miladinović
Ksenija
K
Centar za medicinsku rehabilitaciju Fojnica.
Hodzić
Samiha
S
Zjuzin
Nadezda
N
Lokmic
Eldan
E
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis*; D005621:Friedreich Ataxia / Q000175:diagnosis*; D006801:Humans; D008297:Male