ALTERNATING HEMIPLEGIA OF CHILDHOOD 2

General Information (adopted from Orphanet):

Synonyms, Signs: AHC2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614820
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:0002301) Hemiplegia 42 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001332) Dystonia 197 / 7739
5
(HPO:0001251) Ataxia 413 / 7739
6
(HPO:0012194) Episodic hemiplegia 3 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0002133) Status epilepticus 59 / 7739
9
(HPO:0001266) Choreoathetosis 57 / 7739
10
(HPO:0200072) Episodic quadriplegia 4 / 7739
11
(HPO:0001268) Mental deterioration 88 / 7739
12
(OMIM) Autonomic involvement 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Interictal neurologic impairment 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 characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et ...
Clinical Description OMIM Verret and Steele (1971) first characterized alternating hemiplegia in childhood as a distinct condition. They reported 8 patients, including 2 sibs, with the disorder. All had intermittent hemiparesis of variable severity beginning in infancy or early childhood. Episodes ...
Molecular genetics OMIM In 82 of 105 patients with alternating hemiplegia of childhood, Heinzen et al. (2012) identified 19 different heterozygous mutations in the ATP1A3 gene (see, e.g., 182350.0009-182350.0012). The first mutations were identified through exome sequencing of affected individuals. Thirteen ...