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Clinical features of a genetically identified spinal and 
bulbar muscular atrophy pedigree / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences) ; (12): 1101-1105, 2016.
Artículo en Chino | WPRIM | ID: wpr-815126
ABSTRACT
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Parálisis / Patología / Linaje / Sangre / Atrofia Muscular / Receptores Androgénicos / Pruebas Genéticas / Creatina Quinasa / Diagnóstico / Atrofia Bulboespinal Ligada al X Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Adulto / Humanos / Masculino Idioma: Chino Revista: Journal of Central South University(Medical Sciences) Año: 2016 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Parálisis / Patología / Linaje / Sangre / Atrofia Muscular / Receptores Androgénicos / Pruebas Genéticas / Creatina Quinasa / Diagnóstico / Atrofia Bulboespinal Ligada al X Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Adulto / Humanos / Masculino Idioma: Chino Revista: Journal of Central South University(Medical Sciences) Año: 2016 Tipo del documento: Artículo