Rare Neurology News
Advertisement
Disease Profile
Familial hemiplegic migraine
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
FHM; Hemiplegic Migraine, Familial; Hemiplegic-ophthalmoplegic migraine
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
FHM is currently classified into 4 subtypes, distinguished by their genetic cause:[1][2]
- FHM type 1 (the most common type) is caused by
mutations in the CACNA1Agene and is commonly associated with cerebellar degeneration. - FHM type 2 is caused by mutations in the ATP1A2 gene and may be associated with
seizures . - FHM type 3 is caused by mutations in the SCN1A gene.
- FHM type 4 is diagnosed if no mutation currently known to cause FHM can be identified.
Inheritance of FHM is
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Focal motor |
0011153 | |
Focal sensory seizure | 0011157 | |
Migraine with aura | 0002077 | |
30%-79% of people have these symptoms | ||
Cerebral edema |
Swelling of brain
|
0002181 |
Complex febrile seizure | 0011172 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
CSF lymphocytic pleiocytosis | 0200149 | |
Diplopia |
Double vision
|
0000651 |
Dissociated sensory loss | 0010835 | |
Difficulty articulating speech
|
0001260 | |
Facial tics |
Cramping of facial muscles
Facial spasms
Jerking of facial muscles
Mimic spasms
Spasms of facial muscles
Twitching of facial muscles
[ more ] |
0011468 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Increased CSF |
0002922 | |
Metamorphopsia | 0012508 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Photopsia | 0030786 | |
Postural instability |
Balance impairment
|
0002172 |
Progressive gait |
0007240 | |
Scotoma | 0000575 | |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ] |
0001308 |
Vertigo |
Dizzy spell
|
0002321 |
5%-29% of people have these symptoms | ||
Alien limb phenomenon | 0032506 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Coma | 0001259 | |
Decreased vigilance | 0032044 | |
Distal upper limb muscle weakness | 0008959 | |
Dysphasia | 0002357 | |
0011199 | ||
Facial paralysis | 0007209 | |
Gaze-evoked horizontal |
0007979 | |
Hemiplegia |
Paralysis on one side of body
|
0002301 |
Impaired thermal sensitivity | 0006901 | |
Nuchal rigidity | 0031179 | |
Seesaw nystagmus | 0012044 | |
Spontaneous pain sensation | 0010833 | |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
Vertical nystagmus | 0010544 | |
1%-4% of people have these symptoms | ||
Amaurosis fugax | 0100576 | |
EEG with focal sharp waves | 0011196 | |
First dorsal interossei muscle weakness | 0003392 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
Treatment of sudden hemiplegic migraine “attacks” aims to ease symptoms and may include the use of non-steroidal anti-inflammatory drugs (NSAIDs), anti-nausea medicines (antiemetics), and/or prescription pain medicines.[1][2][5] A medicine called ketamine, ingested through the nose (intranasal), may shorten the duration of aura symptoms if taken as soon as symptoms begin.[1][5][6]
Examples of medicines that may be used to prevent attacks (
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Organizations
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.
Organizations Supporting this Disease
-
American Migraine Foundation (AMF)
19 Mantua Rd.
Mount Royal, NJ 08061
Telephone: 856-423-0043
Fax: 856-423-0082
E-mail: [email protected]
Website: https://americanmigrainefoundation.org/ -
The Migraine Trust
4th Floor
Mitre House
44-46 Fleet Street
London, EC4Y 1BN United Kingdom
Telephone: 0203 9510 150
E-mail: https://www.migrainetrust.org/about-us/contact-us/contact-us/
Website: https://www.migrainetrust.org/
Social Networking Websites
- Visit the following Facebook groups related to Familial hemiplegic migraine:
International Hemiplegic Migraine Foundation (IHMF)
Hemiplegic Migraine Patient Group
Hemiplegic Migraine Caregiver's Support Group
Learn more
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.
Where to Start
- MedlinePlus Genetics contains information on Familial hemiplegic migraine. This website is maintained by the National Library of Medicine.
- The Migraine Trust, a support organization, offers information on Familial hemiplegic migraine
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Familial hemiplegic migraine. Click on the link to view a sample search on this topic.
References
- Kumar A, Arora R. Headache, Migraine Hemiplegic. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; October, 2018; https://www.ncbi.nlm.nih.gov/books/NBK513302/.
- Jen JC. Familial hemiplegic migraine. GeneReviews. May 14, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1388/.
- Familial hemiplegic migraine. Genetics Home Reference (GHR). January, 2014; https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine.
- Robertson CE. Hemiplegic migraine. UpToDate. Waltham, MA: UpToDate; 2018; https://www.uptodate.com/contents/hemiplegic-migraine.
- Hemiplegic Migraine. American Migraine Foundation. https://americanmigrainefoundation.org/resource-library/hemiplegic-migraine/. Accessed 12/7/2018.
- Kaube H, Herzog J, Käufer T, Dichgans M, Diener HC. Aura in some patients with familial hemiplegic migraine can be stopped by intranasal ketamine. Neurology. 2000; 55(1):139. https://n.neurology.org/content/55/1/139.long.
Rare Neurology News