Question: What is (are) oculopharyngeal muscular dystrophy ?
Answer: Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles. Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance. There are two types of oculopharyngeal muscular dystrophy, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types.
Source: GHR

Question: How many people are affected by oculopharyngeal muscular dystrophy ?
Answer: In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculopharyngeal muscular dystrophy is also seen more frequently in the Bukharan (Central Asian) Jewish population of Israel, affecting 1 in 600 people. The autosomal recessive form of this condition is very rare; only a few cases of autosomal recessive oculopharyngeal muscular dystrophy have been identified.
Source: GHR

Question: What are the treatments for oculopharyngeal muscular dystrophy ?
Answer: These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR