Oculopharyngeal Muscular Dystrophy - OPMD
Inherited, mainly autosomal dominant muscular dystrophy, with onset of symptoms in adulthood (40-50 years) and has been found to affect French-Canadian, Spanish and Jewish populations. The muscles involved in swallowing and the muscles of the eyes are mainly affected.
Weakness / tongue atrophy,
Inability of proximal muscles (shoulders, hips),
Difficulty of eye movement upwards,
Personal and familial history, clinical examination, blood tests for mutant gene and CK enzyme, muscle biopsy, nerve signal transduction test, electromyography.
Eye surgery and dysphagia treatment, monitoring of dysphagia and avoiding complications in the respiratory system, such as pneumonia by inhalation, occupational and speech therapy.
Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscu... and https://clinicaltrials.gov/ct2/home
Muscular Dystrophy Association