Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (pronunciation: ok-yoo-loh-far-in-jee-al mus-kyoo-lar dis-truh-fee) is a rare form of muscular dystrophy that affects the muscles of the eyes (oculo-) and throat (pharyngeal). The term originates from the Greek words okulus meaning eye, pharynx meaning throat, and dystrophy meaning abnormal growth or development.
Definition
Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically in middle age, usually around the age of 40.
Symptoms
The first symptom of OPMD is usually ptosis, or drooping of the eyelids. This is followed by difficulty swallowing, or dysphagia. As the disease progresses, it may affect the limbs and cause weakness in the legs and arms.
Causes
OPMD is caused by a mutation in the PABPN1 gene. This gene provides instructions for making a protein that is involved in processing messenger RNA, a molecule that serves as a template for protein production.
Diagnosis
Diagnosis of OPMD is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. Other tests may include a muscle biopsy, electromyography (EMG), and blood tests.
Treatment
There is currently no cure for OPMD. Treatment is focused on managing the symptoms and may include speech therapy for dysphagia, eyelid surgery for ptosis, and physical therapy for limb weakness.
See also
External links
- Medical encyclopedia article on Oculopharyngeal muscular dystrophy
- Wikipedia's article - Oculopharyngeal muscular dystrophy
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