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 movement||90%|
|Abnormality of retinal pigmentation||7.5%|
|Neurological speech impairment||7.5%|
|Sensorineural hearing impairment||7.5%|
|Autosomal dominant inheritance||-|
|Migraine with aura||-|
|Transient unilateral blurring of vision||-|
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. Suggest an organization to add.
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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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