Article
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
Neurology - 18 Jan 2011
Durmus H, Laval S H, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P
Abstract excerpt
BACKGROUND: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated. METHODS: Clinical and genetic findings of 47 patients from 9 unrelated...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Atrophy
- Blepharoptosis
- Child
- Deglutition
- Disease Progression
- Electromyography
- Facial Muscles
- Female
- Follow-Up Studies
- Genes, Dominant