Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]
Détails
ID Serval
serval:BIB_3A9DF9F5614B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]
Périodique
Revue Neurologique
ISSN
0035-3787 (Print)
Statut éditorial
Publié
Date de publication
02/2000
Volume
156
Numéro
2
Pages
161-8
Notes
English Abstract
Journal Article --- Old month value: Feb
Journal Article --- Old month value: Feb
Résumé
We report 21 French patients (12 males and 9 females), presenting a distal myopathy of Miyoshi type. The main clinical features of these patients were 1) onset in late adolescence or early adulthood (mean age: 20.3 years), 2) early and predominant involvement of the posterior compartment muscles of legs, 3) marked elevation of serum CK (from 10 to 50 times the normal value), 4) dystrophic features with a necrotic regeneration pattern without vacuole in muscle biopsy. All cases were sporadic and a consanguinity of parents was found in five cases. The clinical course was relatively mild: twelve patients could walk without aid; However four patients were severely disabled. Four patients were initially considered as having polymyositis; corticosteroids and immunosuppressive drugs were always inefficient. A genetic linkage to chromosome 2 was ascertained in five cases. In our experience the Miyoshi distal myopathy is the most common form of distal myopathy, particularly in young patients.
Mots-clé
Adolescent
Adult
Age of Onset
Female
France/epidemiology
Humans
Incidence
Leg
Male
Muscle, Skeletal/pathology/physiopathology
Muscular Dystrophies/*diagnosis/*epidemiology/physiopathology
Walking
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 14:30