|
FHM
MCID: FML023
MIFTS: 53
|
Familial Hemiplegic Migraine (FHM)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Familial Hemiplegic Migraine:
Characteristics:GeneReviews:24
Penetrance Penetrance for fhm1, 2, and 3 appears to be high and is estimated to be approximately 80% [jurkat-rott et al 2004, riant et al 2005].
Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Eye diseases |
|
NIH Rare Diseases :
52
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. FHM commonly begins during childhood or adolescence. The symptoms of FHM can be scary and distressing. FHM is currently classified into 4 subtypes, distinguished by their genetic cause: 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 ). 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. 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. In most people with hemiplegic migraines, aura symptoms completely go away in between migraines and the migraines become less frequent with age. Rarely, hemiplegic migraines may cause permanent neurological symptoms, cognitive impairment, stroke, coma, or death.
MalaCards based summary : Familial Hemiplegic Migraine, also known as hemiplegic migraine, familial, is related to sporadic hemiplegic migraine and migraine, familial hemiplegic, 2. An important gene associated with Familial Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Ethosuximide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2) Disease Ontology : 12 A migraine with aura that is 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. Genetics Home Reference : 25 Familial hemiplegic migraine 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. Wikipedia : 74 Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically... more...
GeneReviews:
NBK1388
|
GenomeRNAi Phenotypes related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:26 (show all 25)
MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:45
|
Drugs for Familial Hemiplegic Migraine (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
|
Genetic tests related to Familial Hemiplegic Migraine:
|
MalaCards organs/tissues related to Familial Hemiplegic Migraine:40
Brain,
Testes,
Eye,
Trigeminal Ganglion,
Cortex,
Cerebellum,
Spinal Cord
|
Articles related to Familial Hemiplegic Migraine:(show top 50) (show all 693)
|
Genes related to Familial Hemiplegic Migraine (1 elite genes):(show all 29) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Familial Hemiplegic Migraine:6 (show top 50) (show all 193)
|
|
Search
GEO
for disease gene expression data for Familial Hemiplegic Migraine.
|
Pathways related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:(show all 20)
|
Cellular components related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:(show all 19)
Biological processes related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:(show all 38)
Molecular functions related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:(show all 11)
|
|