Permanent muscle weakness in McArdle disease.

Abstract:

:McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salpêtrière Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed by muscle biopsy and genetic investigations. Two patterns of muscle weakness and wasting were noted: (1) proximal and symmetric in 5 patients; and (2) asymmetric, mimicking facioscapulohumeral dystrophy (FSHD) in 4 patients. Computerized tomography scan showed fatty infiltration in the shoulder and pelvic girdle muscles. There was no clear correlation between genotype and the severity of muscle weakness. Proximal muscle weakness appeared after the age of 40 years and affected 11% of subjects in our series of 80 McArdle patients. Among patients over 40 years of age, 37.5% had muscle weakness.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Nadaj-Pakleza AA,Vincitorio CM,Laforêt P,Eymard B,Dion E,Teijeira S,Vietez I,Jeanpierre M,Navarro C,Stojkovic T

doi

10.1002/mus.21351

subject

Has Abstract

pub_date

2009-09-01 00:00:00

pages

350-7

issue

3

eissn

0148-639X

issn

1097-4598

journal_volume

40

pub_type

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