RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement

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...

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show ...

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.

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.