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. Muscles involved in swallowing and eyes muscles are mainly affected.
- Weakness / tongue atrophy,
- Inability of proximal muscles (shoulders, hips),
- Eyelid ptosis,
- Difficulty of eye movement upwards,
Personal and familial history, clinical examination, blood tests for molecular test and CK enzyme, muscle biopsy, nerve conduction tests, 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/muscular-dystrophy/?page=1 and https://clinicaltrials.gov/ct2/home
- Oculopharyngeal muscular dystrophy (OPMD) | Scientific Society for Rare Diseases & Orphan Drugs, http://www.eespof.gr/el/node/20809, August 30, 2017.
- Muscular Dystrophy Canada, Oculopharyngeal muscular dystrophy, http://muscle.ca/wp-content/uploads/2012/11/Oculopharyngeal_E.pdf
- Muscular Dystrophy Association, Oculopharyngeal Muscular Dystrophy (OPMD) – Signs and Symptoms, January 07, 2016, https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy/signs-and-symptoms, August 30, 2017.
- Muscular Dystrophy Canada, Oculopharyngeal muscular dystrophy, http://www.muscle.ca/about-muscular-dystrophy/types-of-neuromuscular-disorders/oculopharyngeal-muscular-dystrophy/, August 30, 2017.
- NORD (National Organization for Rare Disorders), Rare diseases, https://rarediseases.org/rare-diseases