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 movement||
Unusual movement[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Sensorineural hearing impairment||0000407|
|Percent of people who have these symptoms is not available through HPO|
Difficulty finding words
Loss of words[ more ]
Hallucinations of sound
Hearing sounds[ more ]
Degeneration of cerebellum
Mental disorientation[ more ]
Difficulty articulating speech
Mental retardation, nonspecific
Mental-retardation[ more ]
|Migraine with aura||0002077|
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
|Transient unilateral blurring of vision||0001125|
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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 husband has been having issues for about 3 years now. His left side extremities go numb/tingly. It's debilitating. No headache but does have auras. He's had numerous tests, including MRIs and a spinal tap. We've been told possible MS and saw a local doctor as well as a neurologist at a major medical center. We were told it was 'nothing' and to live with it. It seems the barometric pressure really triggers his symptoms. Would weather changes cause symptoms like this? We have no answers but would welcome any theories. See answer
I am curious how accurate hemiplegic migraine testing is. Standardly they test for 3 genes. Familial Hemiplegic Migraine and Sporadic. If I'm correct it is CACNA1A, ATP1A2 and SCN1A. Does everyone with hemiplegic migraine test positive for these mutations and if not, do you know the percentage? See answer
I experienced a headache followed by left sided numbness. I believe my doctor said I had hemiplegic migraine. During these episodes the left side of my body will feel like tiny pinpricks and go completely numb. When it gets really bad it spreads over to my right side and i cannot operate my car. When this happens I do not always get headaches. Is there any information you can give me? See answer