Oculopharyngeal muscular dystrophy

From WikiMD's WELLNESSPEDIA

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC

Oculopharyngeal muscular dystrophy
Synonyms OPMD
Pronounce
Specialty Neurology, Genetics
Symptoms Dysphagia, ptosis, muscle weakness
Complications N/A
Onset Typically after age 40
Duration Progressive
Types
Causes Mutations in the PABPN1 gene
Risks Family history
Diagnosis Genetic testing, muscle biopsy
Differential diagnosis Myasthenia gravis, other muscular dystrophies
Prevention N/A
Treatment Swallowing therapy, surgery for ptosis, dietary modifications
Medication
Prognosis Variable, generally slowly progressive
Frequency Rare
Deaths


Lateral view of orbital nerves
Structure of PABPN1 protein

Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is between 40 and 60 years old. It is characterized by slowly progressive ptosis (drooping of the eyelids) and dysphagia (difficulty swallowing).

Symptoms[edit]

The first symptom of OPMD is usually ptosis, followed by dysphagia. As the disease progresses, weakness in the facial muscles may occur, along with weakness in the limbs. In some cases, individuals may also experience diplopia (double vision).

Causes[edit]

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 (mRNA), which serves as genetic blueprints for making proteins.

Diagnosis[edit]

Diagnosis of OPMD is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. Other tests that may be used include a muscle biopsy, electromyography (EMG), and barium swallow.

Treatment[edit]

There is currently no cure for OPMD. Treatment is focused on managing the symptoms and may include surgery for ptosis and swallowing difficulties. Physical therapy may also be beneficial.

Epidemiology[edit]

OPMD is most common in individuals of French-Canadian descent, but it has been found in many different ethnic groups around the world.

See also[edit]

References[edit]


Stub icon

This WikiMD article can only be edited by registered and verified editors. You can log in or register.

Sponsored Health Resource

W8MD weight loss success

W8MD Weight Loss, Sleep & MedSpa

Looking for physician-supervised weight loss, semaglutide, tirzepatide, or GLP-1 receptor agonist options? W8MD helps eligible patients in New York City, Brooklyn, New Jersey, Connecticut, Pennsylvania, Delaware, and greater Philadelphia with medical weight loss, sleep medicine, and long-term maintenance support.

GLP-1 specials: Affordable GLP-1 injections NYC and Philadelphia starting from $29.99/week and up for semaglutide with insurance accepted for qualifying visits, and $45/week and up for tirzepatide with insurance accepted for qualifying visits. Self-pay options start from $59.99/week and up for semaglutide and $69.99/week and up for tirzepatide.

Book a W8MD appointment · View GLP-1 specials

Paid promotional message. Eligibility, pricing, insurance coverage, medication availability, and results vary. Medical evaluation required.

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Oculopharyngeal_muscular_dystrophy&oldid=6549441"