Autosomal dominant HMSN (CMT) with proximal involvement: new Brazilian cases

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Arq Neuropsiquiatr. 2009 Sep;67(3B):892-6.

Autosomal dominant HMSN with proximal involvement: new Brazilian cases.

Patroclo CB, Lino AM, Marchiori PE, Brotto MW, Hirata MT.

Neurology Clinic, School of Medicine, São o University, São o, SP,

Brazil.

We report four Brazilian siblings with Autosomal Dominant Hereditary Motor

Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of

HMSN, that was characterized by proximal dominant muscle weakness and atrophy

onset after the age of 30 years, fasciculation, arreflexia and sensory

disturbances with autosomal dominant inheritance.

Electrophysiological study and sural nerve biopsy were in the accordance with

axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum

lipids and muscle enzymes abnormalities. Our report is the first done by a group

outside Japan, where the disease initially seemed to be restricted and stressed

the phenotypic variability from the original report.