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Migraine, familial hemiplegic, 1(FHM1)

MedGen UID:
331388
Concept ID:
C1832884
Disease or Syndrome
Synonym: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
SNOMED CT: Familial hemiplegic migraine type 1 (1260329005)
 
Gene (location): CACNA1A (19p13.13)
 
Monarch Initiative: MONDO:0020756
OMIM®: 141500

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 OMIM
Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by Ducros et al., 1999). Genetic Heterogeneity of Familial Hemiplegic Migraine See also FHM2 (602481), caused by mutation in the ATP1A2 gene (182340); FHM3 (609634), caused by mutation in the SCN1A gene (182389); and FHM4 (see 607516), mapped to chromosome 1q31.  http://www.omim.org/entry/141500

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
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.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
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.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.
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.
Auditory hallucination
MedGen UID:
115932
Concept ID:
C0233762
Sign or Symptom
Perception of sounds without auditory stimulus.
Visual hallucination
MedGen UID:
66688
Concept ID:
C0233763
Sign or Symptom
Visual perception in the absence of a visual stimulus.
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.
Dyscalculia
MedGen UID:
452779
Concept ID:
C0869474
Mental or Behavioral Dysfunction
A specific learning disability involving mathematics and arithmetic.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
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.
Transient unilateral blurring of vision
MedGen UID:
356249
Concept ID:
C1865332
Finding
Transient blurring of vision associated with the aura phase of migraine.

Recent clinical studies

Therapy

Luan H, Zhang L, Zhang S, Zhang M
Medicine (Baltimore) 2021 Dec 23;100(51):e28141. doi: 10.1097/MD.0000000000028141. PMID: 34941060Free PMC Article
Magni G, Boccazzi M, Bodini A, Abbracchio MP, van den Maagdenberg AM, Ceruti S
Cephalalgia 2019 Dec;39(14):1809-1817. Epub 2019 Jul 1 doi: 10.1177/0333102419861710. PMID: 31260335
García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E
J Neurol Sci 2014 Jul 15;342(1-2):69-78. Epub 2014 Apr 27 doi: 10.1016/j.jns.2014.04.027. PMID: 24836863

Prognosis

Luan H, Zhang L, Zhang S, Zhang M
Medicine (Baltimore) 2021 Dec 23;100(51):e28141. doi: 10.1097/MD.0000000000028141. PMID: 34941060Free PMC Article

Clinical prediction guides

Loonen ICM, Voskuyl RA, Schenke M, van Heiningen SH, van den Maagdenberg AMJM, Tolner EA
Neurobiol Dis 2024 Mar;192:106405. Epub 2024 Jan 9 doi: 10.1016/j.nbd.2024.106405. PMID: 38211710
Luan H, Zhang L, Zhang S, Zhang M
Medicine (Baltimore) 2021 Dec 23;100(51):e28141. doi: 10.1097/MD.0000000000028141. PMID: 34941060Free PMC Article
García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E
J Neurol Sci 2014 Jul 15;342(1-2):69-78. Epub 2014 Apr 27 doi: 10.1016/j.jns.2014.04.027. PMID: 24836863

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • NICE, 2021
      UK NICE Guideline CG150, Headaches in over 12s: diagnosis and management, 2021
    • Orphanet, 2013
      Orphanet, Hemiplegic Migraine (HM), 2013

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