OPMD may be inherited as an autosomal dominant or recessive trait. In approximately 10 percent of cases, affected individuals may eventually require a wheelchair.Īdditional symptoms may eventually occur including weakness and degeneration (atrophy) of the tongue, weakness and atrophy of the proximal muscles of the arms, limitation of upward gaze, difficulty speaking (dysphonia), and weakness of additional facial muscles. In severe cases, weakness of the leg muscles can affect an individual’s ability to kneel, climb stairs, squat, or walk. Weakness of the muscles of legs does not correlate to the severity of muscle weakness of the eyelids or throat and can occur early in the disease or later. The distal muscles of the legs may become involved in some cases of OPMD. Distal muscles are those farther from the center of the body and include the muscles of the lower arms and legs and the hands and feet. Muscle weakness may spread from the proximal muscles to affect distal muscles. Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. If swallowing difficulties become severe enough, they can lead to the ingestion of food or liquids into the lungs (aspiration), which can cause inflammation or infection of the lungs (aspiration pneumonia).Īs the disease progresses, some individuals will develop weakness and degeneration (atrophy) of the muscles of the upper legs (proximal muscles). Some individuals with OPMD may develop double vision (diplopia).Īffected individuals who experience difficulty swallowing may feel as if food is getting stuck in their throats. Eventually, additional muscles around the eye may gradually weaken potentially restricting the movements of the eyes, but this is rarely complete. Both eyes are usually affected (bilateral). As a result, some affected individuals may tilt their head back to compensate. Ptosis can cause visual impairment if the eyelids droop over the pupils obstructing sight. The two most common initial symptoms of OPMD are drooping of the upper eyelid (ptosis) and difficulty swallowing. The rate of progression and specific symptoms associated with OPMD vary greatly from case to case even among members of the same family. OPMD is characterized by progressive weakness of certain muscles around the eyes, in the throat, and less commonly in the pelvic and shoulder areas including the muscles of the upper legs and arms. Unlike OPMD, most forms of muscular dystrophy have onset during childhood or adolescence.Īlthough the defective gene that causes OPMD is present at birth, the symptoms usually do not appear until adulthood sometime between 40 and 60 years of age. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. Approximately 30 different disorders make up the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. OPMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. In some cases, muscle weakness of the legs may eventually cause difficulty walking. Eventually, additional muscles may become involved including those of the upper legs and arms (proximal limb weakness). Affected individuals may develop drooping of the eyelids (ptosis), trouble moving their eyes (ophthalmoplegia) and/or difficulty swallowing (dysphagia). OPMD is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic muscle disorder with onset during adulthood most often between 40 and 60 years of age. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Ensure Affordability of Prescription Drugs Under the Inflation Reduction Act.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community.
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