How is OPMD diagnosed?
A diagnosis of OPMD can be confirmed through commercially available blood tests that detect the specific genetic abnormality in the PABPN1 gene, known as a repeat expansion, that is associated with OPMD.
How common is OPMD?
One published report estimated the prevalence of OPMD in France at 1 in 100,000 individuals. The autosomal dominant form of OPMD is more common than the autosomal recessive form. OPMD was first reported in the medical literature in 1915. The muscular dystrophies affect approximately 250,000 people in the United States.
How is Oculopharyngeal muscular dystrophy inherited?
Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some individuals have mutations in both copies of the PABPN1 gene that lead to expanded polyalanine tracts.
Which is the most common OPMD presentation found in the United States?
Early signs include ptosis, ophthalmoplegia without diplopia, limb weakness, dysarthria and dysphagia. Symptoms usually begin after the age of 45 years, and ptosis is the most common presenting feature.
Can muscular dystrophy cause swallowing problems?
Purpose: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia).
Who discovered OPMD?
History of the disease OPMD was originally reported in four members of a French-Canadian family in 1915, and first described by M Victors, R Hayes, and RD Adams in 1962.
What causes OPMD?
OPMD is caused by a genetic problem. The problem is in a gene that has the information needed to make a protein called polyadenylate-binding protein (PABPN1). The defect leads to a buildup of PABPN1 in the muscle cells. The PABPN1 clumps inside the muscle cells and may cause the cells to die.
Is there a cure for OPMD?
A surgical cut into the muscle can be a more permanent solution for swallowing problems. In some cases, you may need to bypass the throat completely and use a feeding tube instead. Surgery may also help correct severe eyelid drooping.
What causes weak swallowing muscles?
Certain disorders — such as multiple sclerosis, muscular dystrophy and Parkinson’s disease — can cause dysphagia. Neurological damage. Sudden neurological damage, such as from a stroke or brain or spinal cord injury, can affect the ability to swallow. Pharyngoesophageal diverticulum (Zenker’s diverticulum).
What does OPMD stand for?
Oculopharyngeal Muscular Dystrophy (OPMD) What is oculopharyngeal muscular dystrophy (OPMD)? OPMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.
What is OPMD (ophthalmic peripheral muscular dystrophy)?
OPMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Although named for the muscles it affects first — the eyelids (oculo) and throat (pharyngeal) — OPMD also can affect facial and limb muscles.
Where can I find support with OPMD?
You and your family may find support from organizations such as the Muscular Dystrophy Association . OPMD is a rare genetic condition that causes weakness in the muscles around the upper eyelid and throat. OPMD affects both men and women, usually first appearing in people after 40 years of age.
What is the pathophysiology of OPMD?
OPMD is a rare, slowly progressive myopathy that is characterized by weakness of the eyelids (ocular) and throat (pharyngeal) muscles. Additionally, OPMD can be associated with proximal (near the body midline) and distal (limb) muscle weakness.