A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome)
Journal of the Korean Geriatrics Society
;
: 174-179, 2007.
Artículo
en Coreano
| WPRIM
| ID: wpr-197978
ABSTRACT
We had 58-year-old-man with chronic lower back pain, progressive whole extremities and facial muscle weakness, dysarthria and recurrent aspiration during swallowing, without any sensory disturbance. His two brothers had similar symptoms from their 6th decade. He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. All tendon reflexes were absent without pathologic pyramidal reflex. Nerve conduction studies revealed low median, ulnar, and sural sensory nerve action potential amplitude. On EMG study, there were chronic denervation potentials on most of muscles of extremities. On DNA analysis, there were abnormal expansions of CAG repeats in the androgen receptor gene. We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Reflejo
/
Reflejo de Estiramiento
/
Lengua
/
Potenciales de Acción
/
ADN
/
Análisis Mutacional de ADN
/
Atrofia Muscular
/
Receptores Androgénicos
/
Dolor de la Región Lumbar
/
Deglución
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Geriatrics Society
Año:
2007
Tipo del documento:
Artículo
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