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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Oculopharyngeal muscular dystrophy


Other Names for this Disease

  • Muscular dystrophy, oculopharyngeal
  • OPMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of oculopharyngeal muscular dystrophy?

There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70.[1]  The most common symptoms of OPMD include:[2]

  • Muscle weakness (also known as myopathy)
  • Droopy eyelids (also known as ptosis)
  • Difficulty swallowing (also known as dysphagia)
  • Double vision
  • Tongue weakness
  • Upper and/or lower body weakness
  • Weakness of the muscles in the face
  • Voice disorders (in about half of people with this condition)
Last updated: 5/2/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Oculopharyngeal muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the pharynx 90%
Amyotrophy 90%
Myopathy 90%
Ophthalmoparesis 90%
Ptosis 90%
Mask-like facies 7.5%
Adult onset -
Autosomal dominant inheritance -
Distal muscle weakness -
Dysarthria -
Dysphagia -
Facial palsy -
Gait disturbance -
Limb muscle weakness -
Mask-like facies -
Neck muscle weakness -
Progressive disorder -
Progressive ptosis -
Proximal muscle weakness -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Braise B, Rouleau GA. Oculopharyngeal muscular dystrophy. Gene Reviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opmd#opmd. Accessed 2/4/2009.
  2. Urtizberea JA. Oculopharyngeal muscular dystrophy. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-OPMD.pdf. Accessed 2/4/2009.


Other Names for this Disease
  • Muscular dystrophy, oculopharyngeal
  • OPMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.