sábado, 17 de agosto de 2013

Familial hemiplegic migraine - Genetics Home Reference

Familial hemiplegic migraine - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

Familial hemiplegic migraine
Reviewed June 2008

What is familial hemiplegic migraine?

Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
In some types of migraine, including familial hemiplegic migraine, a pattern of neurological symptoms called an aura precedes the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour.
Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine. These episodes have included fever, seizures, prolonged weakness, coma, and, rarely, death. Although most people with familial hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. About 20 percent of people with this condition develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus.
Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.

How common is familial hemiplegic migraine?

The worldwide prevalence of familial hemiplegic migraine is unknown. In Denmark, studies suggest that the disorder affects about 1 in 10,000 people. Like other forms of migraine, familial hemiplegic migraine affects females more often than males.

What genes are related to familial hemiplegic migraine?

Mutations in the CACNA1A, ATP1A2, and SCN1A genes have been found to cause the three known types of familial hemiplegic migraine. Each of these genes provides instructions for making a protein that is involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system.
Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Researchers believe that mutations in the CACNA1A, ATP1A2, and SCN1A genes can upset the balance of ions in neurons, which disrupts the normal release and reuptake of certain neurotransmitters in the brain. The resulting changes in signaling between neurons make people with familial hemiplegic migraine more susceptible to developing these severe headaches.
There is little evidence that mutations in the CACNA1A, ATP1A2, and SCN1A genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as familial hemiplegic migraine, as well as the more common forms of migraine.
Read more about the ATP1A2, CACNA1A, and SCN1A genes.

How do people inherit familial hemiplegic migraine?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. By definition, everyone with familial hemiplegic migraine has at least one relative with the condition. In most cases, affected individuals have one affected parent.

Where can I find information about diagnosis or management of familial hemiplegic migraine?

These resources address the diagnosis or management of familial hemiplegic migraine and may include treatment providers.
You might also find information on the diagnosis or management of familial hemiplegic migraine in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about familial hemiplegic migraine?

You may find the following resources about familial hemiplegic migraine helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for familial hemiplegic migraine?

  • Hemiplegic Migraine, Familial
  • Hemiplegic-ophthalmoplegic migraine
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about familial hemiplegic migraine?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding familial hemiplegic migraine?

References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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