Muscular dystrophy, oculopharyngeal
=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 (ocular) and throat (pharyngeal), leading to difficulties in swallowing (dysphagia) and drooping eyelids (ptosis).
Symptoms[edit | edit source]
The symptoms of OPMD typically begin in adulthood, usually after the age of 40. Common symptoms include:
- Ptosis: Drooping of the upper eyelids, which can impair vision.
- Dysphagia: Difficulty swallowing, which can lead to choking and aspiration.
- Weakness in the proximal muscles, particularly those of the shoulders and hips.
Genetics[edit | edit source]
OPMD is most commonly caused by mutations in the PABPN1 gene. This gene provides instructions for making a protein involved in the regulation of mRNA processing. The mutation leads to an abnormal expansion of a short segment of DNA, resulting in the production of a protein with an extended polyalanine tract.
Inheritance[edit | edit source]
OPMD is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, it can also be inherited in an autosomal recessive pattern.
Diagnosis[edit | edit source]
Diagnosis of OPMD is based on clinical evaluation, family history, and genetic testing. Muscle biopsy and electromyography (EMG) may also be used to assess muscle function and structure.
Treatment[edit | edit source]
There is currently no cure for OPMD, but treatment focuses on managing symptoms and improving quality of life. Options include:
- Surgical intervention for ptosis to improve vision.
- Dietary modifications and swallowing therapy to manage dysphagia.
- Physical therapy to maintain muscle strength and mobility.
Research[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms of OPMD and developing potential therapies. Gene therapy and other molecular approaches are being explored as potential treatments.
See Also[edit | edit source]
- Muscular Dystrophy
- Genetic Disorders
- Neuromuscular Diseases
- GeneReviews: Oculopharyngeal Muscular Dystrophy
- NIH Rare Diseases: Oculopharyngeal Muscular Dystrophy
NIH genetic and rare disease info[edit source]
Muscular dystrophy, oculopharyngeal is a rare disease.
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Contributors: Prab R. Tumpati, MD
