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|
|Abnormal eyelid morphology||
Abnormality of the eyelid
Abnormality of the eyelids[ more ]
Autoimmune disorder[ more ]
Muscle pain[ more ]
Puffiness around the eyes
Swelling around the eyes[ more ]
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
|30%-79% of people have these symptoms|
|Abnormal hair quantity||0011362|
|Abnormality of the nail||0001597|
Persistent blue color of hands, feet, or parts of face
Calcium deposits in joints
|Diffuse reticular or finely nodular infiltrations||0002207|
Tiredness[ more ]
|Interstitial pulmonary abnormality||0006530|
Low or weak muscle tone
Skin itching[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Open skin sore
|5%-29% of people have these symptoms|
|Abnormal eosinophil morphology||0001879|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Bacterial infection of skin
Skin infection[ more ]
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Inability to produce voice sounds
|Feeding difficulties in infancy||0008872|
Cancer of lymphatic system
Increased blood pressure in blood vessels of lungs
|Telangiectasia of the skin||0100585|
Inflammation of blood vessel
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnoses include muscular dystrophies of late onset, as well as adult-onset nemaline myopathy, proximal myotonic myopathies and systemic lupus erythematosus, pityriasis rubra pilaris, lichen planus (see these terms), and polymorphous light eruption.
Visit the Orphanet disease page for more information.
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.
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