This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the eyelid||
Abnormality of the eyelids
Autoimmune disorder[ more ]
Puffiness around the eyes
Swelling around the eyes[ more ]
|Proximal muscle weakness||0003701|
|30%-79% of people have these symptoms|
|Abnormal hair quantity||0011362|
|Abnormality of the nail||0001597|
|Diffuse reticular or finely nodular infiltrations||0002207|
Tiredness[ more ]
|Interstitial pulmonary abnormality||0006530|
Skin itching[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|5%-29% of people have these symptoms|
|Abnormality of eosinophils||0001879|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Bacterial infection of skin
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Inability to produce voice sounds
|Feeding difficulties in infancy||0008872|
|Telangiectasia of the skin||0100585|
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Workshop on Inflammatory Myopathy Wednesday, April 5, 2000 -
Thursday, April 6, 2000
Location: NIH Campus, Bethesda, MD
Description: The goal of this workshop was to provide a forum for researchers in the areas of myositis, muscle biology, and immunology to review the current status of research on inflammatory myopathies and explore potential new avenues of research.
Contact: Dr. Paul Plotz(301) 496-1474
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
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