Alternating hemiplegia of childhood
| Alternating hemiplegia of childhood | |
|---|---|
| Other names | AHC |
| Specialty | Neurology |
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia (weakness or paralysis) that those with the condition experience. It typically presents before the age of 18 months. These hemiplegic attacks can cause anything from mild weakness to complete paralysis on one or both sides of the body, and they can vary greatly in duration. Attacks may also alternate from one side of the body to the other, or alternate between affecting one or both sides during a single attack. Besides hemiplegia, symptoms of the disorder include an extremely broad range of neurological and developmental impairments which are not well understood. Normally, hemiplegia and other associated symptoms cease completely with sleep, but they may recur upon waking.[1]
Most frequently AHC is caused by a spontaneous mutation in the ATP1A3 gene.[2][3][4] It is an extremely rare disorder – approximately one in one million people have AHC. It was only recently discovered, having first been characterized in 1971.[4][5]
- ^ Alternating Hemiplegia of Childhood Foundation. "What is AHC?". Archived from the original on 10 November 2010. Retrieved 2010-11-29.
- ^ Heinzen, Erin L; Swoboda, Kathryn J; Hitomi, Yuki; Gurrieri, Fiorella; Nicole, Sophie; et al. (September 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nature Genetics. 44 (9): 1030–1034. doi:10.1038/ng.2358. PMC 3442240. PMID 22842232.
- ^ Rosewich, Hendrik; Thiele, Holger; Ohlenbusch, Andreas; Maschke, Ulrike; Altmüller, Janine; Frommolt, Peter; Zirn, Birgit; Ebinger, Friedrich; Siemes, Hartmut; Nürnberg, Peter; Brockmann, Knut; Gärtner, Jutta (September 2012). "Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study". The Lancet Neurology. 11 (9): 764–773. doi:10.1016/S1474-4422(12)70182-5. PMID 22850527. S2CID 24720135.
- ^ a b Sweney, Matthew T.; Silver, Kenneth; Gerard-Blanluet, Marion; Pedespan, Jean-Michel; Renault, Francis; Arzimanoglou, Alexis; Schlesinger-Massart, Mylynda; Lewelt, Aga J.; Reyna, Sandra P.; Swoboda, Kathryn J. (March 2009). "Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome". Pediatrics. 123 (3): e534 – e541. doi:10.1542/peds.2008-2027. PMID 19254988. S2CID 12239930.
- ^ Verret, Simon; Steele, John C. (1 April 1971). "Alternating Hemiplegia in Childhood: A Report of Eight Patients with Complicated Migraine Beginning in Infancy". Pediatrics. 47 (4): 675–680. doi:10.1542/peds.47.4.675. PMID 5089756. S2CID 10993002.