ORPHA:2131

Alternating hemiplegia of childhood

Synonyms: AHC

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Infancy, Neonatal
Status: active

A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of intellectual disability, movement disorders, and psychiatric problems. Half of them present with epilepsy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Alternating hemiplegia of childhood	AHC
fr	Hémiplégie alternante de l'enfance
de	Hemiplegie, alternierende, der Kindheit	= en
es	Hemiplejía alternante de la infancia
it	Emiplegia alternante dell'infanzia	AHC · Emiplegia alternante del bambino
nl	Alternerende hemiplegie in de kindertijd	= en
pt	Hemiplegia alternante da infância	= en
pl	Zmienne porażenie dziecięce	= en
cs	Alternující hemiplegie dětského věku	= en
uk	Альтернуюча геміплегія дитячого віку	= en
zh	儿童交替性偏瘫	= en
tr	Çocukluk çağı alternatif hemiplejisi	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	104290	BTNT		validated
OMIM	614820	BTNT		validated
ICD-10	G98	NTBT	attributed	validated
ICD-11	MB53.0	NTBT	index	validated
MONDO	0016241	E		validated
MeSH	C536589	E		validated
UMLS	C0338488	E		validated
GARD	11	E		validated
MedDRA	10077948	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:209978Alternating hemiplegia
rare genetic diseases; rare neurological diseases

No children.

Genes

8 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CACNA1A	Candidate gene tested in	Not yet assessed	HGNC:1388	ENSG00000141837	601011	19p13.13	calcium voltage-gated channel subunit alpha1 A	18498393[PMID]
SLC1A3	Candidate gene tested in	Not yet assessed	HGNC:10941	ENSG00000079215	600111	5p13.2	solute carrier family 1 member 3
ATP1A2	Disease-causing germline mutation(s) in	Assessed	HGNC:800	ENSG00000018625	182340	1q23.2	ATPase Na+/K+ transporting subunit alpha 2	15286158[PMID]
ATP1A3	Disease-causing germline mutation(s) in	Assessed	HGNC:801	ENSG00000105409	182350	19q13.2	ATPase Na+/K+ transporting subunit alpha 3	22842232[PMID]
MT-TL2	Disease-causing germline mutation(s) in	Assessed	HGNC:7491	ENSG00000210191	590055	mitochondria	mitochondrially encoded tRNA-Leu (CUN) 2	32489883[PMID]
RHOBTB2	Disease-causing germline mutation(s) in	Assessed	HGNC:18756	ENSG00000008853	607352	8p21.3	Rho related BTB domain containing 2	33504645[PMID]
SCN2A	Disease-causing germline mutation(s) in	Assessed	HGNC:10588	ENSG00000136531	182390	2q24.3	sodium voltage-gated channel alpha subunit 2	38097767[PMID]
SLC2A1	Disease-causing germline mutation(s) in	Assessed	HGNC:11005	ENSG00000117394	138140	1p34.2	solute carrier family 2 member 1	19996082[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 1 000 000	0.94 / 100 000	Denmark	Value and class	Validated	24100174[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

65 annotations · validated 2021-06-30

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0011024	Abnormality of the gastrointestinal tract
HP:0012194	Episodic hemiplegia
HP:0002579	Gastrointestinal dysmotility
Frequent (79-30%)
HP:0003270	Abdominal distention
HP:0012332	Abnormal autonomic nervous system physiology
HP:0012547	Abnormal involuntary eye movements
HP:0002039	Anorexia
HP:0001251	Ataxia
HP:0000708	Atypical behavior
HP:0002019	Constipation
HP:0000750	Delayed speech and language development
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0001332	Dystonia
HP:0000565	Esotropia
HP:0000577	Exotropia
HP:0001508	Failure to thrive
HP:0031284	Flushing
HP:0001249	Intellectual disability
HP:0011499	Mydriasis
HP:0012758	Neurodevelopmental delay
HP:0000639	Nystagmus
HP:0200136	Oral-pharyngeal dysphagia
HP:0000980	Pallor
HP:0001250	Seizure
HP:0002273	Tetraparesis
HP:0002013	Vomiting
Occasional (29-5%)
HP:0005135	Abnormal T-wave
HP:0007256	Abnormal pyramidal sign
HP:0000718	Aggressive behavior
HP:0002104	Apnea
HP:0001284	Areflexia
HP:0002835	Aspiration
HP:0002069	Bilateral tonic-clonic seizure
HP:0002483	Bulbar signs
HP:0031546	Cardiac conduction abnormality
HP:0002072	Chorea
HP:0001266	Choreoathetosis
HP:0001944	Dehydration
HP:0002714	Downturned corners of mouth
HP:0001260	Dysarthria
HP:0000712	Emotional lability
HP:0002263	Exaggerated cupid's bow
HP:0000297	Facial hypotonia
HP:0011153	Focal motor seizure
HP:0002315	Headache
HP:0000348	High forehead
HP:0000975	Hyperhidrosis
HP:0001347	Hyperreflexia
HP:0001252	Hypotonia
HP:0100710	Impulsivity
HP:0031931	Ocular flutter
HP:0000657	Oculomotor apraxia
HP:0007166	Paroxysmal dyskinesia
HP:0002344	Progressive neurologic deterioration
HP:0002098	Respiratory distress
HP:0002063	Rigidity
HP:0032649	Skewfoot
HP:0002133	Status epilepticus
HP:0045074	Thin eyebrow
HP:0001337	Tremor
Very rare (<4-1%)
HP:0011675	Arrhythmia
HP:0001638	Cardiomyopathy
Excluded (0%)
HP:0410263	Brain imaging abnormality
HP:0002353	EEG abnormality

Run the differential on the 3 obligate / very frequent terms

Annotation source: 32883312[PMID]_20301294[PMID]_32280259[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2131
This record as JSON: /data/d/2131.json