Oculopharyngeal Muscular Dystrophy (OPMD)

What is oculopharyngeal muscular dystrophy (OPMD)?

Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by a slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. OPMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases affecting voluntary muscles.

What are the symptoms of oculopharyngeal muscular dystrophy (OPMD)?

The following are some of the associated symptoms of OPMD:

• Drooping eyelids (ptosis)
• Difficulty swallowing (dysphagia)
• Atrophy of the tongue
• Weakness of the muscles in the face and limbs
• Double vision
• Development of breathy voice

What causes oculopharyngeal muscular dystrophy (OPMD)?

OPMD may be inherited as an autosomal dominant or recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. OPMD, in particular, is caused by mutations in the PABPN1 gene.

How is oculopharyngeal muscular dystrophy (OPMD) diagnosed?

OPMD is diagnosed with a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings. An OPMD diagnosis can be confirmed by blood tests that can detect the mutation of the PABPN1 gene.

What are the available treatments for oculopharyngeal muscular dystrophy (OPMD)?

OPMD treatment primarily focuses on managing the specific signs and symptoms of the disease. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty), while those with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy.

Where can I find out more about oculopharyngeal muscular dystrophy (OPMD)?

• NIH
• Muscular Dystrophy Association
• National Organization for Rare Disorders (NORD)