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Diseases

Genetic and Rare Diseases Information Center (GARD)

Oculopharyngeal muscular dystrophy


Other Names for this Disease
  • OPMD
  • Muscular dystrophy, oculopharyngeal
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?

OPMD is characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.

Individuals with OPMD may also have double vision (diplopia) and frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.[1][2][3][4]
Last updated: 6/15/2016

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%
Myopathy 90%
Ophthalmoparesis 90%
Ptosis 90%
Skeletal muscle atrophy 90%
Mask-like facies 7.5%
Adult onset -
Autosomal dominant inheritance -
Distal muscle weakness -
Dysarthria -
Dysphagia -
Facial palsy -
Gait disturbance -
Limb muscle weakness -
Neck muscle weakness -
Progressive -
Progressive ptosis -
Proximal muscle weakness -

Last updated: 7/1/2016

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. Capucine Trollet, Teresa Gidaro, Pierre Klein, Sophie Périé, Gillian Butler-Browne, Jean Lacau St Guily. Oculopharyngeal muscular dystrophy. GeneReviews. Februaru 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1126/.
  2. Pr John VISSING. Oculopharyngeal muscular dystrophy. Orphanet. May 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270.
  3. Michael Lee. Muscular Dystrophy, Oculopharyngeal. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Muscular%20Dystrophy%2C%20Oculopharyngeal.
  4. Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy.


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