HMSN autossômica dominante com envolvimento proximal: novos casos brasileiros
| Autor: | Mario Wilson Iervolino Brotto, Paulo Eurípides Marchiori, M. T. A. Hirata, Cristiane Borges Patroclo, Angelina Maria Martins Lino |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Male
proximal motor neuropathy neuropatia axonal Biopsy axonal neuropathy Sural nerve Sensory system Electromyography Fasciculation Atrophy Asian People Sural Nerve medicine Humans HMSN atrofia muscular proximal proximal muscle atrophy medicine.diagnostic_test business.industry Siblings neuropatia motora proximal Muscle weakness Anatomy Middle Aged medicine.disease Pedigree Phenotype Neurology HMSN-P Neurology (clinical) medicine.symptom business Hereditary Sensory and Motor Neuropathy Polyneuropathy Brazil |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Volume: 67, Issue: 3b, Pages: 892-896, Published: SEP 2009 Arquivos de Neuro-Psiquiatria v.67 n.3b 2009 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO |
| Popis: | 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. Relatamos os casos de quatro irmãos brasileiros com Neuropatia Sensitivo Motora Hereditária com Envolvimento Proximal Dominante (HMSN-P), uma forma rara de HMSN caracterizada por fraqueza muscular de predomínio proximal e atrofia de instalação após os 30 anos, fasciculações, arreflexia, distúrbios sensitivos e padrão de herança autossômica dominante. Os estudos eletrofisiológicos e de biópsia do nervo sural confirmaram o diagnóstico de polineuropatia sensitivo-motora com padrão lesional axonal. Laboratorialmente foram constatadas anormalidades séricas no metabolismo lipídico e enzimas musculares. Nosso relato é o primeiro feito por um grupo fora do Japão, onde a doença parecia restrita até então e ressalta a variabilidade fenotípica apresentada nos casos Brasileiros. |
| Databáze: | OpenAIRE |
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