ALTERNATING HEMIPLEGIA OF CHILDHOOD 1

General Information (adopted from Orphanet):

Synonyms, Signs: AHC1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 104290
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000496) Abnormality of eye movement 79 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0001332) Dystonia 197 / 7739
4
(HPO:0001266) Choreoathetosis 57 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0200072) Episodic quadriplegia 4 / 7739
7
(HPO:0001268) Mental deterioration 88 / 7739
8
(HPO:0012194) Episodic hemiplegia 3 / 7739
9
(OMIM) Upward eye deviation during episodes 1 / 7739
10
(OMIM) Headache is usually not a symptom 1 / 7739
11
(OMIM) Generalized tonic-clonic seizures in 50% 1 / 7739
12
(OMIM) Neurologic regression after prolonged episodes 1 / 7739
13
(OMIM) Autonomic involvement affecting limbs during episodes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati ...
Clinical Description OMIM Mikati et al. (1992) reported what appeared to be the first instance of familial occurrence of alternating hemiplegia of childhood. Inheritance appeared to be autosomal dominant. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures ...
Molecular genetics OMIM In affected members of the family reported by Kanavakis et al. (2003), Swoboda et al. (2004) identified a thr378-to-asn mutation in the ATP1A2 gene (T378N; 182340.0005). Mutation analysis in 8 sporadic patients and affected subjects from 5 additional ...