ORPHA:569
Familial or sporadic hemiplegic migraine
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial or sporadic hemiplegic migraine | |
| fr | Migraine hémiplégique familiale ou sporadique | |
| de | Migräne, hemiplegische, familiäre oder sporadische Form | |
| es | Migraña hemipléjica familiar o esporádica | |
| it | Emicrania emiplegica familiare o sporadica | |
| nl | Familiale of sporadische hemiplegische migraine | |
| pt | Enxaqueca hemiplégica familiar ou esporádica | |
| pl | Rodzinna lub sporadyczna migrena połowiczo-porażenna | |
| cs | Familiární nebo sporadická hemiplegická migréna | |
| uk | Сімейна або спорадична геміплегічна мігрень | |
| zh | 家族性或散发性偏瘫型偏头痛 | |
| tr | Ailesel veya sporadik hemiplejik migren |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141500 | BTNT | validated | |
| OMIM | 602481 | BTNT | validated | |
| OMIM | 607516 | NTBT | validated | |
| OMIM | 609634 | BTNT | validated | |
| ICD-10 | G43.1 | NTBT | inclusion | validated |
| ICD-11 | 8A80.10 | E | specific | validated |
| MONDO | 0018925 | E | validated | |
| UMLS | C0270862 | E | validated | |
| GARD | 10768 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:98745Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
rare genetic diseases - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:183509Rare genetic headache
rare genetic diseases - ORPHA:98022Rare headache
rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP1A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:800 | ENSG00000018625 | 182340 | 1q23.2 | ATPase Na+/K+ transporting subunit alpha 2 | 20301562[PMID] |
| CACNA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 20301562[PMID] |
| PRRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30500 | ENSG00000167371 | 614386 | 16p11.2 | proline rich transmembrane protein 2 | 23077016[PMID]_23077024[PMID]_22845787[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 20301562[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Denmark | Value and class | Validated | 12023326[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
51 annotations · validated 2020-05-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002353 | EEG abnormality | |
| HP:0011153 | Focal motor seizure | |
| HP:0011157 | Focal sensory seizure | |
| HP:0002077 | Migraine with aura | |
| HP:0001324 | Muscle weakness | |
| Frequent (79-30%) | ||
| HP:0200149 | CSF lymphocytic pleiocytosis | |
| HP:0012229 | CSF pleocytosis | |
| HP:0002181 | Cerebral edema | |
| HP:0011172 | Complex febrile seizure | |
| HP:0001289 | Confusion | |
| HP:0000651 | Diplopia | |
| HP:0010835 | Dissociated sensory loss | |
| HP:0001260 | Dysarthria | |
| HP:0011468 | Facial tics | |
| HP:0032900 | Focal manual automatism seizure | |
| HP:0032901 | Focal pedal automatism seizure | |
| HP:0000365 | Hearing impairment | |
| HP:0001269 | Hemiparesis | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0004305 | Involuntary movements | |
| HP:0012508 | Metamorphopsia | |
| HP:0003401 | Paresthesia | |
| HP:0030786 | Photopsia | |
| HP:0002172 | Postural instability | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0000575 | Scotoma | |
| HP:0001308 | Tongue fasciculations | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0032506 | Alien limb phenomenon | |
| HP:0002381 | Aphasia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001259 | Coma | |
| HP:0032044 | Decreased vigilance | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0011199 | EEG with generalized sharp slow waves | |
| HP:0007209 | Facial paralysis | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0002301 | Hemiplegia | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002463 | Language impairment | |
| HP:0031179 | Nuchal rigidity | |
| HP:0012044 | Seesaw nystagmus | |
| HP:0010833 | Spontaneous pain sensation | |
| HP:0000360 | Tinnitus | |
| HP:0010544 | Vertical nystagmus | |
| Very rare (<4-1%) | ||
| HP:0100576 | Amaurosis fugax | |
| HP:0011196 | EEG with focal sharp waves | |
| HP:0003392 | First dorsal interossei muscle weakness | |
| HP:0001249 | Intellectual disability | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29334453[PMID]_29343472[PMID]_21458376[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/569
- This record as JSON: /data/d/569.json