Oculopharyngeal muscular dystrophy
- Muscular dystrophy, oculopharyngeal
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.
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.
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.
- 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/.
- Pr John VISSING. Oculopharyngeal muscular dystrophy. Orphanet. May 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270.
- 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.
- Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy.