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Autosomal dominant HMSN with proximal involvement: new Brazilian cases

HMSN autossômica dominante com envolvimento proximal: novos casos brasileiros

Cristiane Borges Patroclo Angelina Maria Martins Lino Paulo Eurípides Marchiori Mário Wilson Iervolino Brotto Maria Teresa Alves Hirata About the authors

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.

HMSN; HMSN-P; proximal motor neuropathy; axonal neuropathy; proximal muscle atrophy


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