Autosomal dominant HMSN with proximal involvement: new Brazilian cases

Arquivos de Neuro-Psiquiatria

Cristiane Borges Patroclo²  Angelina Maria Martins Lino¹  Paulo Eurípides Marchiori¹  Mário Wilson Iervolino Brotto²  Maria Teresa Alves Hirata¹ 

[1] ,São Paulo University School of Medicine Neurology ClinicSão Paulo SP ,Brazil

关键词: HMSN;    HMSN-P;    proximal motor neuropathy;    axonal neuropathy;    proximal muscle atrophy;    HMSN;    HMSN-P;    neuropatia motora proximal;    neuropatia axonal;    atrofia muscular proximal;   

DOI  :  10.1590/S0004-282X2009000500021

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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