Can Oculopharyngeal muscular dystrophy cause death?

Can Oculopharyngeal muscular dystrophy cause death?

Can Oculopharyngeal muscular dystrophy cause death?

Aspiration pneumonia and malnutrition are the leading cause of death in patients with OPMD, but do not shorten life expectancy because these tend to occur late in the disease.

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.

How is OPMD diagnosed?

A diagnosis is confirmed through commercially available blood tests that can detect the specific genetic abnormality associated with OPMD (i.e., mutation of the PABPN1 gene).

Can you exercise with muscular dystrophy?

A safe and effective exercise program can have a positive effect on the symptoms of muscular dystrophy by increasing muscle strength and endurance, enhancing mobility and reducing the risk of falling.

What is facioscapulohumeral muscular dystrophy?

Facioscapulohumeral (FSH) muscular dystrophy is a form of muscular dystrophy that most commonly causes progressive weakness of the face, upper arms and shoulder regions, though symptoms can affect the legs as well. The disease is caused by degeneration of muscle due to a missing chromosome in the person’s genes.

Does muscular dystrophy affect swallowing?

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.

What causes throat muscles to weaken?

Some of the causes of esophageal dysphagia include:

  • Achalasia.
  • Diffuse spasm.
  • Esophageal stricture.
  • Esophageal tumors.
  • Foreign bodies.
  • Esophageal ring.
  • GERD .
  • Eosinophilic esophagitis.

Is facioscapulohumeral muscular dystrophy rare?

Facioscapulohumeral muscular dystrophy (FSHD) is a rare familial disease with an estimated prevalence from 1/8,000 to 1/20,000. It is the third most common form of hereditary myopathy.