What is the prevalence of Oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder characterized by progressive muscle weakness. It primarily affects the muscles of the eyes (oculo-), throat (pharyngeal), and sometimes other muscles in the body. OPMD is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

The prevalence of OPMD varies among different populations. It is more commonly found in individuals of French-Canadian, Hispanic, and Bukhara Jewish descent. In these populations, the prevalence ranges from 1 in 1,000 to 1 in 10,000 individuals. Outside of these specific populations, OPMD is considered to be a rare disease.

While the prevalence of OPMD may seem low, it is important to note that the impact of the condition on affected individuals can be significant. The progressive muscle weakness can lead to difficulties with swallowing (dysphagia), droopy eyelids (ptosis), and other symptoms that can affect daily functioning and quality of life.

Research efforts are ongoing to better understand the underlying mechanisms of OPMD and develop potential treatments. Genetic counseling and support groups can also provide valuable resources for individuals and families affected by this condition.