HMSN/CMT Type 2 with Ataxia/Rousey Levy - Research from Croatia

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Abstract from Med Arh. 2003;57(3):197-8.

[Hereditary ataxia and sensory-motor neuropathy]

[Article in Croatian]

Miladinovic K, Hodzic S, Zjuzin N, Lokmic E.

Centar za medicinsku rehabilitaciju Fojnica.

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 sensory

neuropathy--HMSN type II and presented its characteristics.