Recent studies on oculopharyngeal muscular dystrophy in Québec

In 1990, we launched a major study to ascertain the clinical picture of OPMD in Québec and to identify large families for linkage analysis. In 14 patients, the chromosomes were karyotyped to eliminate any deletion or translocation. Relevant family information and clinical data were computerized and...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 1997-10, Vol.7, p.S22-S29
Main Authors: Bouchard, Jean-Pierre, Brais, Bernard, Brunet, Denis, Gould, Peter V., Rouleau, Guy A.
Format: Article
Language:English
Subjects:
Adult
Aged
Biopsy
Cytogenetics
Electromyography
Electromyography (EMG)
Genetic Linkage
Humans
Male
Middle Aged
Muscle pathology
Muscle, Skeletal - chemistry
Muscle, Skeletal - innervation
Muscle, Skeletal - pathology
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Muscular Dystrophies - physiopathology
Nerve involvement
Oculomotor Muscles
Oculopharyngeal muscular dystrophy (OPMD)
Peripheral Nerves - physiopathology
Pharyngeal Muscles
Quebec
Ubiquitin
Ubiquitins - analysis
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Summary:In 1990, we launched a major study to ascertain the clinical picture of OPMD in Québec and to identify large families for linkage analysis. In 14 patients, the chromosomes were karyotyped to eliminate any deletion or translocation. Relevant family information and clinical data were computerized and correlations were sought for the age of onset, the identification of the first symptom and the distribution of weakness. A simple test to detect dysphagia was validated. Twenty-one families have taken part in the study, which led to our localization of the gene in 1995 [Brais B, Xie Y-G, Sanson M, et al. Hum Mol Genet 1995;4:429–434]. At least one case in each family underwent muscle biopsy to confirm the presence of the typical nuclear filaments found in OPMD. Electrodiagnostic and pathologic studies were also conducted to better understand the disease process. An illustrative case is presented.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(97)00077-1