Familial hemiplegic migraine

Title

Other Names:

FHM; Hemiplegic Migraine, Familial; Hemiplegic-ophthalmoplegic migraine

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Familiar or sporadic hemiplegic migraine

Summary Summary

Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine. Hemiplegic migraine is a type of migraine with aura that causes motor impairment (such as weakness) in addition to at least one visual, sensory, or speech disturbance (aura) that occurs before the migraine headache begins.^[1]^[2] FHM commonly begins during childhood or adolescence.^[2] The symptoms of FHM can be scary and distressing.^[1]

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 CACNA1A gene 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 autosomal dominant, but not everyone who inherits a mutation responsible for FHM will have symptoms (a phenomenon called reduced penetrance).^[1]^[3] The diagnosis of FHM requires that at least one first- or second-degree relative has also been diagnosed with hemiplegic migraine. Tests such as a CT scan or MRI of the brain, cerebrospinal fluid analysis, and EEG may be needed to rule out other potential causes of headache and neurological symptoms.^[1] Genetic testing may confirm the subtype of FHM in a family. Treatment of hemiplegic migraine involves medications to alleviate pain, stop the migraines, and prevent future migraines. Severe headache attacks may require hospitalization.^[1] In most people with hemiplegic migraines, aura symptoms completely go away in between migraines and the migraines become less frequent with age.^[2] Rarely, hemiplegic migraines may cause permanent neurological symptoms, cognitive impairment, stroke, coma, or death.^[1]^[2]

Last updated: 1/2/2019

Symptoms Symptoms

Familial hemiplegic migraine (FHM) commonly begins during childhood or adolescence.^[2] It is characterized by migraine with aura along with motor impairment (such as weakness on one side of the body, known as hemiparesis), in addition to “classic” aura which is marked by visual, sensory, and/or speech disturbances. The aura usually occurs before the migraine headache begins, developing over minutes and lasting less than an hour.^[1]^[2] Motor symptoms such as weakness may switch sides between or during attacks, and rarely may affect both sides of the body.^[1] While a headache doesn’t always follow, when it does, it causes throbbing pain, nausea, and/or sensitivity to light. The headache can last several hours to a few days^[2]^[3] The symptoms of FHM can be scary and distressing.^[1]

Last updated: 1/2/2019

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Focal motor seizure		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
Dysarthria	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 protein		0002922
Metamorphopsia		0012508
Paresthesia	Pins and needles feeling Tingling [ more ]	0003401
Photopsia		0030786
Postural instability	Balance impairment	0002172
Progressive gait ataxia		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
EEG with generalized sharp slow waves		0011199
Facial paralysis		0007209
Gaze-evoked horizontal nystagmus		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
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Status epilepticus	Repeated seizures without recovery between them	0002133

Showing of 43 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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

There are no official treatment guidelines for familial hemiplegic migraine (FHM), and no randomized, controlled trials regarding treatment for hemiplegic migraine have been conducted.^[4] People with hemiplegic migraine typically are treated with the same medicines used for typical migraine with aura (for pain, and to stop or prevent migraines). However, medicines that constrict the blood vessels (vasoconstrictors) should be avoided because they may increase the risk for stroke.^[1]^[2]^[4] Examples of vasoconstrictors that may be used to treat typical migraine with aura include triptans and ergotamines.^[1] Treatment may depend on the severity and frequency of attacks as well as specific symptoms, and therefore may vary from person to person. Multiple therapies, either alone or in combination, may need to be tried before finding a treatment regime that is helpful.

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 (prophylactic medicines) may include verapamil, flunarizine, ketamine, lamotrigine, and naloxone. Non-randomized studies have suggested acetazolamide may be effective in preventing attacks in some people with FHM.^[1]^[2]^[4] Other medicines that may be used to prevent attacks include amitriptyline, topiramate, and valproic acid.^[1]^[2] Individualized anti-seizure therapy may additionally be needed for people with FHM who have seizures (particularly those with FHM type 2).^[2]

Last updated: 1/2/2019

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.

Prognosis Prognosis

Although most people with familial hemiplegic migraine (FHM) recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. The occurrence of FHM attacks tends to decrease with age. The eventual neurologic outcome is often benign; however, about 20 percent of individuals with FHM develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and nystagmus (rapid, involuntary eye movements). Unusually severe migraine episodes have been reported in some people with FHM. These episodes may include fever, seizures, prolonged weakness, coma, and, rarely, death.^[2]^[3]

Last updated: 11/28/2016

Research Research

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.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations 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: amf@talley.com
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

Do you know of an organization? We want to hear from you.

Learn More 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

Genetics Home Reference (GHR) 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.

News & Events News & Events

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GARD Answers GARD Answers

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

What is the prognosis for memory retention when patient is on prophylactic medications such a Topamax? The migraines are interfering with my work, yet the Topamax makes me fuzzy as well. Will that resolve? See answer

Have a question? Contact a GARD Information Specialist.

References 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.