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Oculopharyngeal Muscular Dystrophy – OPMD

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.

 

Symptoms

Dysphagia,

Weakness / tongue atrophy,

Inability of proximal muscles (shoulders, hips),

Eyelid ptosis,

Difficulty of eye movement upwards,

Diplopia.

Diagnosis

Personal and familial history, clinical examination, blood tests for mutant gene and CK enzyme, muscle biopsy, nerve signal transduction test, electromyography.

 

Management

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

 

References

Muscular Dystrophy Association