The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the pharynx||90%|
|Skeletal muscle atrophy||90%|
|Autosomal dominant inheritance||-|
|Distal muscle weakness||-|
|Limb muscle weakness||-|
|Neck muscle weakness||-|
|Proximal muscle weakness||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My father may have this disease. Should I be tested? Where? How? If this is caught early can anything be done about it? What treatment opportunities are there? Is this limited to French Canadians? We cannot trace our genealogy back to French Canada but we do know that some of our ancestors came from Europe. See answer
What kind of disease is this? What impact will it have on my life? Where did it come from? I don't understand how I got this 'rare' disease and don't know anything about it. Could you please help me understand? I would like to be in a research study. How can I find one? See answer
My husband has a family history of oculopharyngeal muscular dystrophy. I am worried that he may be affected. Can the symptoms of this condition occur at earlier ages in susequent generations? Could this condition affect sperm mobility? What are the chances that a child we have together could be affected? See answer