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Permanent muscle weakness in M C Ardle disease
Author(s) -
NadajPakleza Aleksandra A.,
Vincitorio Carlo M.,
Laforêt Pascal,
Eymard Bruno,
Dion Elisabeth,
Teijeira Susana,
Vietez Irene,
Jeanpierre Marc,
Navarro Carmen,
Stojkovic Tanya
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21351
Subject(s) - weakness , proximal muscle weakness , myology , medicine , muscle weakness , muscle biopsy , wasting , facioscapulohumeral muscular dystrophy , muscular dystrophy , biopsy , anatomy
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 5patients; 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. Muscle Nerve, 2009