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|
|30%-79% of people have these symptoms|
Abnormality of cognition
Mental impairment[ more ]
Mental disorientation[ more ]
Decreased muscle tone
Low muscle tone[ more ]
|Sensorineural hearing impairment||0000407|
Loss of vision
Vision loss[ more ]
|5%-29% of people have these symptoms|
|Abnormality of eye movement||
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue[ more ]
Lack of feeling, emotion, interest
Difficulty articulating speech
Inability to coordinate movements when walking
|Nausea and vomiting||0002017|
Ringing in ears
Ringing in the ears[ more ]
|Upper motor neuron dysfunction||0002493|
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
Differential diagnosis includes inflammatory demyelinating CNS disease (such as multiple sclerosis, acute disseminated encephalitis, neuromyelitis optica (Devic's disease); see these terms), other diseases involving the CNS (Meniere disease (see this term), infections, malignancies, psychotic disorders, cerebrovascular disease and isolated branch retinal artery occlusion) and autoimmune diseases (limbic encephalitis, Cogan syndrome, Eales disease, autoimmune inner-ear disease, polyarteritis nodosa, Wegener granulomatosis, Churg-Strauss syndrome, systemic lupus erythematosus, antiphospholipid syndrome, Sjögren syndrome and Behçet disease; see these terms).
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.
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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