U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Migraine, familial hemiplegic, 2(FHM2)

MedGen UID:
355962
Concept ID:
C1865322
Disease or Syndrome
Synonyms: Familial hemiplegic migraine, type 2; Hemiplegic migraine, familial type 2
SNOMED CT: Familial hemiplegic migraine type 2 (1260330000)
 
Gene (location): ATP1A2 (1q23.2)
 
Monarch Initiative: MONDO:0011232
OMIM®: 602481

Disease characteristics

Excerpted from the GeneReview: Familial Hemiplegic Migraine
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. [from GeneReviews]
Authors:
Joanna C Jen   view full author information

Additional description

From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine

Clinical features

From HPO
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Aphasia
MedGen UID:
8159
Concept ID:
C0003537
Mental or Behavioral Dysfunction
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Apraxia
MedGen UID:
8166
Concept ID:
C0003635
Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Cerebral edema
MedGen UID:
2337
Concept ID:
C0006114
Pathologic Function
Abnormal accumulation of fluid in the brain.
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Confusion
MedGen UID:
3587
Concept ID:
C0009676
Mental or Behavioral Dysfunction
Lack of clarity and coherence of thought, perception, understanding, or action.
Drowsiness
MedGen UID:
4390
Concept ID:
C0013144
Finding
Abnormal feeling of sleepiness or difficulty staying awake.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Focal motor seizure
MedGen UID:
5237
Concept ID:
C0016399
Disease or Syndrome
A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
Hemiparesis
MedGen UID:
6783
Concept ID:
C0018989
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Hemiplegia
MedGen UID:
9196
Concept ID:
C0018991
Sign or Symptom
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Migraine with aura
MedGen UID:
57822
Concept ID:
C0154723
Disease or Syndrome
A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Hereditary episodic ataxia
MedGen UID:
314033
Concept ID:
C1720189
Disease or Syndrome
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Transient unilateral blurring of vision
MedGen UID:
356249
Concept ID:
C1865332
Finding
Transient blurring of vision associated with the aura phase of migraine.

Professional guidelines

Recent clinical studies

Etiology

Kros L, Lykke-Hartmann K, Khodakhah K
Sci Rep 2018 Nov 16;8(1):16959. doi: 10.1038/s41598-018-35285-8. PMID: 30446731Free PMC Article
Roth C, Ferbert A, Huegens-Penzel M, Siekmann R, Freilinger T
J Neurol Sci 2018 Sep 15;392:22-27. Epub 2018 Jun 26 doi: 10.1016/j.jns.2018.06.019. PMID: 30097147
Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM
Cephalalgia 2017 Jul;37(8):737-755. Epub 2016 May 24 doi: 10.1177/0333102416651284. PMID: 27226003

Diagnosis

Tang C, Unekawa M, Shibata M, Tomita Y, Izawa Y, Sugimoto H, Ikeda K, Kawakami K, Suzuki N, Nakahara J
Cephalalgia 2020 Oct;40(11):1177-1190. Epub 2020 Jun 2 doi: 10.1177/0333102420929028. PMID: 32484063
Du Y, Li C, Duan FJ, Zhao C, Zhang W
Neuropediatrics 2020 Jun;51(3):215-220. Epub 2019 Nov 25 doi: 10.1055/s-0039-3400986. PMID: 31766058
Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM
Cephalalgia 2017 Jul;37(8):737-755. Epub 2016 May 24 doi: 10.1177/0333102416651284. PMID: 27226003
Blicher JU, Tietze A, Donahue MJ, Smith SA, Østergaard L
Cephalalgia 2016 Mar;36(3):279-83. Epub 2015 May 6 doi: 10.1177/0333102415586064. PMID: 25948653
Doğanli C, Oxvig C, Lykke-Hartmann K
Neurosci Biobehav Rev 2013 Dec;37(10 Pt 2):2774-87. Epub 2013 Oct 1 doi: 10.1016/j.neubiorev.2013.09.013. PMID: 24091024

Prognosis

Fear D, Patel M, Zand R
BMC Neurol 2021 Apr 21;21(1):173. doi: 10.1186/s12883-021-02201-z. PMID: 33882852Free PMC Article
Calame DG, Houck K, Lotze T, Emrick L, Parnes M
Eur J Paediatr Neurol 2021 Mar;31:21-26. Epub 2021 Jan 16 doi: 10.1016/j.ejpn.2021.01.004. PMID: 33578253
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F
Eur J Med Genet 2020 Jan;63(1):103624. Epub 2019 Jan 25 doi: 10.1016/j.ejmg.2019.01.014. PMID: 30690204
Tang W, Zhang M, Qiu E, Kong S, Li Y, Liu H, Dong Z, Yu S
Cephalalgia 2019 Oct;39(11):1382-1395. Epub 2019 May 3 doi: 10.1177/0333102419847738. PMID: 31053037
Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM
Cephalalgia 2017 Jul;37(8):737-755. Epub 2016 May 24 doi: 10.1177/0333102416651284. PMID: 27226003

Clinical prediction guides

Tang W, Zhang M, Qiu E, Kong S, Li Y, Liu H, Dong Z, Yu S
Cephalalgia 2019 Oct;39(11):1382-1395. Epub 2019 May 3 doi: 10.1177/0333102419847738. PMID: 31053037
Roth C, Ferbert A, Huegens-Penzel M, Siekmann R, Freilinger T
J Neurol Sci 2018 Sep 15;392:22-27. Epub 2018 Jun 26 doi: 10.1016/j.jns.2018.06.019. PMID: 30097147
Pelzer N, Blom DE, Stam AH, Vijfhuizen LS, Hageman A, van Vliet JA, Ferrari MD, van den Maagdenberg A, Haan J, Terwindt GM
Cephalalgia 2017 Jul;37(8):737-755. Epub 2016 May 24 doi: 10.1177/0333102416651284. PMID: 27226003
Iizuka T, Tominaga N, Kaneko J, Sato M, Akutsu T, Hamada J, Sakai F, Nishiyama K
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):344-53. Epub 2014 Jun 30 doi: 10.1136/jnnp-2014-307731. PMID: 25411546
Barros J, Mendes A, Matos I, Pereira-Monteiro J
J Headache Pain 2012 Oct;13(7):581-5. Epub 2012 Jun 5 doi: 10.1007/s10194-012-0462-5. PMID: 22661290Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...