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 eye||90%|
|Abnormal hair quantity||50%|
|Abnormality of the nail||50%|
|Recurrent respiratory infections||50%|
|Restrictive ventilatory defect||50%|
|Abnormality of eosinophils||7.5%|
|Abnormality of temperature regulation||7.5%|
|Abnormality of the myocardium||7.5%|
|Abnormality of the pericardium||7.5%|
|Abnormality of the voice||7.5%|
|Aplasia/Hypoplasia of the skin||7.5%|
|Coronary artery disease||7.5%|
|Feeding difficulties in infancy||7.5%|
|Gastrointestinal stroma tumor||7.5%|
|Neoplasm of the breast||7.5%|
|Neoplasm of the lung||7.5%|
|Neurological speech impairment||7.5%|
|Telangiectasia of the skin||7.5%|
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.
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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