Linked Life Data

19670320

Source:http://linkedlifedata.com/resource/pubmed/id/19670320

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-8-31
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
350-7
pubmed:meshHeading
pubmed-meshheading:19670320-Aged, pubmed-meshheading:19670320-Cohort Studies, pubmed-meshheading:19670320-DNA Mutational Analysis, pubmed-meshheading:19670320-Electromyography, pubmed-meshheading:19670320-Female, pubmed-meshheading:19670320-Genetic Predisposition to Disease, pubmed-meshheading:19670320-Glycogen Phosphorylase, Muscle Form, pubmed-meshheading:19670320-Glycogen Storage Disease Type V, pubmed-meshheading:19670320-Humans, pubmed-meshheading:19670320-Male, pubmed-meshheading:19670320-Middle Aged, pubmed-meshheading:19670320-Muscle, Skeletal, pubmed-meshheading:19670320-Muscle Weakness, pubmed-meshheading:19670320-Muscular Dystrophy, Facioscapulohumeral, pubmed-meshheading:19670320-Mutation, pubmed-meshheading:19670320-Myoglobinuria, pubmed-meshheading:19670320-Tomography Scanners, X-Ray Computed
pubmed:year
2009
pubmed:articleTitle
Permanent muscle weakness in McArdle disease.
pubmed:affiliation
Institute of Myology, Pitié-Salpêtrière Hospital, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France. anadpak@gmail.com
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't