Oculopharyngeal muscular dystrophy

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Oculopharyngeal muscular dystrophy
Synonyms	OPMD
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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

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

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

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

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

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

• Muscular dystrophy
• Genetic disorder
• PABPN1

References

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