Glycogen Storage Disease Type II: A Case Report
Journal of the Korean Academy of Rehabilitation Medicine
; : 1224-1230, 1997.
Article
de Ko
| WPRIM
| ID: wpr-723035
Bibliothèque responsable:
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pelvis
/
Épaule
/
Volition
/
Biopsie
/
Glycogénose
/
Glycogénose de type II
/
Diagnostic différentiel
/
Alpha-Glucosidase
/
Glycogène
/
Maladies musculaires
Type d'étude:
Diagnostic_studies
Limites du sujet:
Adolescent
/
Adult
/
Humans
/
Male
langue:
Ko
Texte intégral:
Journal of the Korean Academy of Rehabilitation Medicine
Année:
1997
Type:
Article