Glycogen Storage Disease Type II: A Case Report
Journal of the Korean Academy of Rehabilitation Medicine
; : 1224-1230, 1997.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-723035
Biblioteca responsável:
WPRO
ABSTRACT
Glycogen Storage Disease Type II is caused by the deficiency of acid maltase resulting in lysosomal accumulation of glycogen. There are two major clinical syndromes, a severe generalized and invariable fatal disease of infancy, and a myopathy starting in juvenile or adult life. The clinical and laboratory findings of a patient with Glycogen Storage Disease Type II are presented. The patient, a 17-year-old male, experienced slowly progressive weakness of muscle of the pelvis shoulder girdles and trunk. Muscle biopsy showed vacuolar myopathy and electromyograph showed features of myopathy with fibrillation potentials, positive sharp waves, myotonic discharges, without clinical myotonia at rest, and polyphasic potentials on volition. Clinical features, histopathologic and electrophysiologic findings of this disease and differential diagnosis were reviewed.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pelve
/
Ombro
/
Volição
/
Biópsia
/
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo II
/
Diagnóstico Diferencial
/
Alfa-Glucosidases
/
Glicogênio
/
Doenças Musculares
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Adulto
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Ano de publicação:
1997
Tipo de documento:
Artigo