title: 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.
authors: Institute of Myology, Pitié-Salpêtrière Hospital, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France. anadpak@gmail.com
authors: Aleksandra A
authors: AA
authors: Nadaj-Pakleza
authors: Carlo M
authors: CM
authors: Vincitorio
authors: Pascal
authors: P
authors: Laforêt
authors: Bruno
authors: B
authors: Eymard
authors: Elisabeth
authors: E
authors: Dion
authors: Susana
authors: S
authors: Teijeira
authors: Irene
authors: I
authors: Vietez
authors: Marc
authors: M
authors: Jeanpierre
authors: Carmen
authors: C
authors: Navarro
authors: Tanya
authors: T
authors: Stojkovic
mesh_terms: D000368:Aged; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004576:Electromyography / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics; D006012:Glycogen Storage Disease Type V / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis; D009154:Mutation / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology / Q000235:genetics; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form