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Oculopharyngeal Muscular Dystrophy (OPMD)

Oculopharyngeal Muscular Dystrophy (OPMD)



Overview

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition. It causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. The condition may affect vision and cause problems swallowing and talking.  

OPMD affects both men and women. It often first appears between 40 and 60 years of age. As the disease slowly gets worse, the muscle weakness can extend into the neck and shoulders. In time, OPMD may affect the arms and legs and lead to trouble with walking. OPMD generally doesn't shorten a person’s life span. 

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease that leads to muscle weakness. You usually develop symptoms in adulthood, around age 40 or 50, even though you’re born with the gene change that causes OPMD. The symptoms of OPMD are progressive, meaning they worsen over time. But your symptoms usually progress slowly.

OPMD is a type of muscular dystrophy. Muscular dystrophies are inherited diseases that cause muscle weakness. This type of muscular dystrophy is “oculopharyngeal” because it causes muscle weakness that affects your:

Eyelids (ocular).

Throat (pharyngeal).

Oculopharyngeal muscular dystrophy may affect anyone, although it’s most common in:

Bukharan Jewish people of Israel, affecting around 1 in 700 people.

French-Canadian people of Quebec, affecting around 1in 1,000 people.

Symptoms



OPMD affects your eyes and throat. Weakness in your eyelids and throat muscles may cause:

Difficulty speaking (dysphonia).

Difficulty swallowing (dysphagia).

Double vision (diplopia).

Drooping eyelids (ptosis).

Facial weakness.

Impaired vision and limited eye movement.

Weakness or atrophy in your tongue.

People with OPMD also frequently have symptoms that affect the muscles in the center of their body (proximal muscles). In particular, OPMD may affect your:

Hips.

Shoulders.

Upper legs.

You may need to use an assistive device such as a cane or a walker, as weakness worsens in your proximal muscles. About 1 in 10 people with OPMD eventually need to use a wheelchair.

Very rarely, you may have a severe form of OPMD that causes severe muscle weakness before age 45. In these cases, you usually have difficulty walking on your own by age 60. You may also have:

Depression.

False beliefs that seem true to you (delusions).

Gradual loss of thinking abilities (cognitive decline).

Problems with your nerve function (neuropathy).

Causes

Oculopharyngeal muscular dystrophy is a genetic disorder, meaning it occurs because of a gene change (mutation) that’s present at birth. The gene mutation that causes OPMD occurs in your PABPN1 gene. You inherit the PABPN1 gene mutation from one or both of your parents. Most people who have OPMD have one parent with OPMD.

Most genes come in pairs, and your DNA contains two copies of the PABPN1 gene. You only need to have the gene mutation in one copy of your PABPN1 gene to develop oculopharyngeal muscular dystrophy. However, some people have the mutation in both copies of their PABPN1 gene. People with mutations in both PABPN1 gene copies usually have more severe OPMD symptoms developing earlier in life.

Diagnosis

Your healthcare provider may initially diagnose OPMD based on your symptoms. They usually confirm the diagnosis with a blood test that looks for the PABPN1 gene mutation.

You may also have tests such as:

Electromyograms: These tests usually include nerve conduction studies and needle electrode examination to assess how your muscles respond to nerve signals.

Muscle biopsies: These tests take a small sample of muscle tissue. Your provider may use a muscle biopsy to look for the PABPN1 gene mutation if blood tests aren’t clear.

Swallowing tests: These tests check for problems in your throat muscles that could be causing dysphagia.

Treatment

Treatment for oculopharyngeal muscular dystrophy (OPMD) varies depending on your symptoms and how severe they are. Treatment may include:

Occupational or physical therapy: Working with a therapist may help you build strength and participate in your usual activities. Your therapist may recommend devices such as canes, leg braces or walkers if muscle weakness affects your walking and movement abilities.

Speech therapy: A speech-language pathologist can help you with swallowing and speaking problems related to OPMD. You may take smaller bites, position your head differently or modify your diet to reduce swallowing problems.

Botulinum toxin injections: A provider may inject botulinum toxin into one of the muscles at the top of your throat. This temporarily relaxes the muscle so you can swallow more easily. You may need injections every few months for lasting results.

Blepharoptosis repair: A provider may recommend plastic surgery to correct eyelid drooping. A blepharoptosis repair raises your eyelids so you can see better.

Cricopharyngeal myotomy: A surgeon makes an incision in your cricopharyngeal muscle, a muscle in your throat just above your esophagus. This helps your throat muscles remain relaxed so food passes into your esophagus more easily.

Tube feeding (enteral nutrition): A feeding tube may be an appropriate treatment if you have severe swallowing problems. A provider inserts the tube through your nose or belly, which provides nutrients directly to your intestines or stomach. A feeding tube gives you nutrition while bypassing your throat completely.

Treatment for oculopharyngeal muscular dystrophy (OPMD) varies depending on your symptoms and how severe they are. Treatment may include:

Occupational or physical therapy: Working with a therapist may help you build strength and participate in your usual activities. Your therapist may recommend devices such as canes, leg braces or walkers if muscle weakness affects your walking and movement abilities.

Speech therapy: A speech-language pathologist can help you with swallowing and speaking problems related to OPMD. You may take smaller bites, position your head differently or modify your diet to reduce swallowing problems.

Botulinum toxin injections: A provider may inject botulinum toxin into one of the muscles at the top of your throat. This temporarily relaxes the muscle so you can swallow more easily. You may need injections every few months for lasting results.

Blepharoptosis repair: A provider may recommend plastic surgery to correct eyelid drooping. A blepharoptosis repair raises your eyelids so you can see better.

Cricopharyngeal myotomy: A surgeon makes an incision in your cricopharyngeal muscle, a muscle in your throat just above your esophagus. This helps your throat muscles remain relaxed so food passes into your esophagus more easily.

Tube feeding (enteral nutrition): A feeding tube may be an appropriate treatment if you have severe swallowing problems. A provider inserts the tube through your nose or belly, which provides nutrients directly to your intestines or stomach. A feeding tube gives you nutrition while bypassing your throat completely.

Treatment for oculopharyngeal muscular dystrophy (OPMD) varies depending on your symptoms and how severe they are. Treatment may include:

Occupational or physical therapy: Working with a therapist may help you build strength and participate in your usual activities. Your therapist may recommend devices such as canes, leg braces or walkers if muscle weakness affects your walking and movement abilities.

Speech therapy: A speech-language pathologist can help you with swallowing and speaking problems related to OPMD. You may take smaller bites, position your head differently or modify your diet to reduce swallowing problems.

Botulinum toxin injections: A provider may inject botulinum toxin into one of the muscles at the top of your throat. This temporarily relaxes the muscle so you can swallow more easily. You may need injections every few months for lasting results.

Blepharoptosis repair: A provider may recommend plastic surgery to correct eyelid drooping. A blepharoptosis repair raises your eyelids so you can see better.

Cricopharyngeal myotomy: A surgeon makes an incision in your cricopharyngeal muscle, a muscle in your throat just above your esophagus. This helps your throat muscles remain relaxed so food passes into your esophagus more easily.

Tube feeding (enteral nutrition): A feeding tube may be an appropriate treatment if you have severe swallowing problems. A provider inserts the tube through your nose or belly, which provides nutrients directly to your intestines or stomach. A feeding tube gives you nutrition while bypassing your throat completely.

Type of Doctor Department :A neurologist


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