Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy

Keywords Disease name and synonyms Definition/Diagnosis criteria Excluded diseases Prevalence Clinical description Management including treatment Etiology / Heredity Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant form of late-onset slowly progressive myopathy characterized by e...

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.

CONTEXT Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world. We have observed numerous cases of OPMD in New Mexico. OBJECTIVE To characterize the clinical, genetic, and demographic features of the OPMD population in New Mexico. DESIG...

Familial late onset oculopharyngeal muscular dystrophy.

An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report.

a Universidade Federal de São Paulo (UNIFESP), Fellowship em Otorrinolaringologia Pediátrica, São Paulo, SP, Brazil b Universidade Federal de São Paulo (UNIFESP), Fellowship em Laringologia, São Paulo, SP, Brazil c Universidade Federal de São Paulo (UNIFESP), Departamento de Fonoaudiologia, São Paulo, SP, Brazil d Universidade Federal de São Paulo (UNIFESP), Departamento de ORL-CCP, São Paulo, ...

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.