Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]

Details

Serval ID
serval:BIB_3A9DF9F5614B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]
Journal
Revue Neurologique
Author(s)
Eymard  B., Laforet  P., Tome  F. M., Collin  H., Leroy  J. P., Hauw  J. J., Richard  I., Beckmann  J., Fardeau  M.
ISSN
0035-3787 (Print)
Publication state
Published
Issued date
02/2000
Volume
156
Number
2
Pages
161-8
Notes
English Abstract
Journal Article --- Old month value: Feb
Abstract
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.
Keywords
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
Create date
25/01/2008 17:17
Last modification date
20/08/2019 14:30
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