The prevalence is 1 in a million, and it was first reported in the medical literature in 1971. Alternating Hemiplegia of Childhood Research Consortium (IAHCRC), and the European Network for Research on Alternating Hemiplegia (ENRAH), or personal communication with collaborators, from nine countries. snevsi@lf1.cuni.cz BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disease of unknown aetiology characterized by recurrent paroxysmal attacks of side-alternating hemiplegias of variable duration associated with other paroxysmal dysfunctions. However, the first symptoms classically begin in childhood before the age of 18 months. Indeed, there is an expanding spectrum of ATP1A3 neurological diseases, with overlapping symptoms:  rapid-onset dystonia-parkinsonism (RDP, DYT12, OMIM #128235), CAPOS Syndrome (OMIM #601338) and more recently, early infantile epilepsy with encephalopathy (EIEE), recurrent encephalopathy with cerebellar ataxia (RECA), Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE), and D-DEMØ. In some of the remaining patients the cause is ATP1A2 mutations, while in the rest, the etiology is still unknown. Life-Long Mutations in the alpha 3 subunit of the sodium potassium ATPase are the cause of AHC in approximately 75% of patients. Haffejee S(1), Santosh PJ. Adult patients and their families need to be supported in the transition from pediatric neurology to neurology for adults. Ultra-Rare Neuro Condition As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may affect one side of the body or the other (hemiplegia) or both sides of the body at once (quadriplegia). 7 talking about this. Together the one finger for AHC #OneinaMillion campaign engaged 300 people sharing their photos. CUREAHCUK (ALTERNATING HEMIPLEGIA OF CHILDHOOD) By | 2018-04-27T11:35:04+01:00 April 27th, 2018 | Comments Off on CUREAHCUK (ALTERNATING HEMIPLEGIA OF CHILDHOOD) Share This Story, Choose Your Platform! Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. However, this genetic variation doesn’t fully explain the clinical variation in phenotype. Furthermore, the OBSERV-AHC Study is investigating the natural history of AHC, the efficacy of current therapies, as well as validating some new specific scales to use as indicators for future clinical trials. E-mail: b.neville@ich.ucl.ac.uk Alternating hemiplegia of childhood has many factors that make it difficult to manage. Alternating Hemiplegia is characterised by onset in infancy or childhood of episodes of weakness of one side of the body; later in the course of the disease, both sides may be affected at the same time. Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disease caused by specific groups of mutations in the ATP1A3 gene.Rapid Onset Dystonia-Parkinsonism (RDP) and, recently, a new syndrome (CAPOS) have been recognized involving other mutations of the same gene. Alternating Hemiplegia of Childhood (AHC) is a complex neurodevelopmental disorder. For severe and long-lasting plegic/dystonic episodes, and for seizures or status epilepticus, hospitalization may be necessary, and more specific treatment and measures may be adopted. More recently, new IAHCRC Studies have been launched, to study the role of sleep in AHC and the role of AHC genotype in cardiac repolarization. The clinical reference centres provide opportunities for a correct and early diagnosis as well as continuous follow-up treatment and family support. [45] All these research projects are driven and largely funded by AHC patient associations with hope for an improved future for those living with this cruel disease. The severity of AHC and the specific types of episodes that occur can vary dramatically from one individual to another. Research and Care to improve the future of people with AHC. In addition to pharmacological treatment, with the aim to reduce their frequency, a preventive measure can be to limit the exposure to the most known triggering factors for AHC episodes. Alternating Hemiplegia of Childhood Support Group UK offers news and forum for people dealing with alternating hemiplegia of childhood. Antiepileptic drugs are used for those patients with confirmed seizures and episodes of status epilepticus.For AHC-specific episodes, several drugs are used both as prophylaxis, to reduce the frequency, duration, and severity of the episodes, and as acute treatment, to interrupt an ongoing episode. What are the symptoms of alternating hemiplegia? The prevalence is 1 in a million, and it was first reported in the medical literature in 1971. [2]  This gene codes for a sodium/potassium ion pump which is critical for the neurological system. A single effective treatment for this condition is yet to be established; flunarizine is currently the most widely used but with varying degrees of success. We highlight th, ‘AHC & ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou, YouTube Video UCq92OHi55xlSZaFukNB0Vdw_6FHQ4fphD1U, AHC UK - Alternating Hemiplegia of Childhood UK, Up to 100 UK children a week hospitalised with rare post-Covid disease | Exclusive: 75% of children worst affected by paediatric inflammatory multi-system syndrome are BAME, RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood, A personal journey of an AHC family: An Introduction, Raise your One Finger for AHC #OneinaMillion #AHCAwarenessWeek, AHC UK Research Newsletter & International AHC Day 18th January 2021, ‘AHC and ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou, seizures (both epileptiform and non-epileptiform) and episodes of status epilepticus. For acute treatment, the most effective reported drugs are benzodiazepines and chloral hydrate. Causes "attacks" with symptoms ranging from mild weakness to complete paralysis on one or both sides of the body Alternating hemiplegia of childhood is an ultra-rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia from which those with the disorder suffer. Connect with them and share experiences. Many Neuro Symptoms in One Condition AHC associations have played a major role in promoting and supporting collaboration between researchers and the sharing of resources. [13], In 2012 a group of mutations in the ATP1A3 gene (located on chromosome 19) was identified as causing AHC in approximately 70-80% of cases[2, 14, 15]  The ATP1A3 gene encodes a protein functioning as a sodium-potassium ion pump at the neuronal level (Na+, K+-ATPase)[3]  and has a critical role in the regulation of the nervous system. Clinical diagnosis is based on diagnostic criteria clearly defined in literature since 1980 [4, 5, 28]. [4, 5]  These neurological symptoms will vary and fluctuate during an individual’s life.Some symptoms are episodic (also called paroxysmal, i.e having a sudden onset, a duration, and a conclusion, either spontaneous or induced by drugs) and some others are permanent manifestations, even if fluctuating in severity and intensity, and comorbidities. The AHC associations play an essential role also in the creation of clinical reference centres for AHC in many countries worldwide; the development of Clinical Registries and Biobanks; the organisation of the annual International Symposium on ATP1A3 in disease since 2012 for scientists, clinicians, and families to learn together; the creation and management of the IAHCRC (International AHC Research Consortium).[44]. Parents spend their lives trying to minimise triggers, but the condition is sometimes described as a timebomb where they are “just waiting, waiting for it to go off.”, In addition to all these types of episodes, AHC is also a neurodevelopmental condition, characterized by many permanent symptoms, ranging from mild to severe physical and cognitive disabilities. Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. Alternating hemiplegia of Childhood is a condition that causes transient weakness of either, or both, sides of the body. Two-year-old Kylian Gealer is often unable to move a muscle - and left as still as a statue - by a condition which has no cure. Other drugs are used for prophylaxis (topiramate, acetazolamide, memantine, aripiprazole, and more recently, ketogenic diet, oral ATP, and anecdotally cannabinoids), but most of these other drugs’ reports of efficacy are from single case reports (e.g. Please contact for more details about specific events. A key part of the clinical diagnositc criteria is resolution of the plegic attacks during sleep. [11]  Gastrointestinal disorders[12], breathing complications, and sleep apnoea have also been shown in AHC. AHC is caused by mutations in the ATP1A3 gene in the majority of those affected. plegic (floppy/flaccid paralysis) attacks. Hospital for Children NHS Trust, London, UK. *Correspondence to first author at Neurosciences Unit, Institute of Child Health, University College London, The Wolfson Centre, Mecklenburg Square, London WC1N 2AP, UK. dystonic (painful muscle rigidity) attacks (which can include full body dystonia). This was highlighted in the article published in Nature Genetics in 2012 as an important factor in allowing the discovery of the ATP1A3 gene in AHC[2]. First symptoms usually begin before the age of 18 months. Research is still ongoing searching for an additional gene(s) involved. Sleep plays a peculiar and critical role in AHC. oral ATP) or case series of only a handful of patients. For prophylaxis, Flunarizine is the only drug effective for most patients, albeit in open-label experience. The weakness typically gets better, but reoccurs in the next episode. We highlight th, ‘AHC & ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou, YouTube Video UCq92OHi55xlSZaFukNB0Vdw_6FHQ4fphD1U, RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood, A personal journey of an AHC family: An Introduction, Raise your One Finger for AHC #OneinaMillion #AHCAwarenessWeek, AHC UK - Alternating Hemiplegia of Childhood UK, Up to 100 UK children a week hospitalised with rare post-Covid disease | Exclusive: 75% of children worst affected by paediatric inflammatory multi-system syndrome are BAME, AHC UK Research Newsletter & International AHC Day 18th January 2021, ‘AHC and ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou. Other genetic mutations have been proposed as causing AHC, but are either not yet conclusively linked or don’t fit the full AHC diagnostic criteria and are instead a differential diagnosis. Together the one finger for AHC #OneinaMillion campaign engaged 300 people sharing their photos. [1] A groundbreaking discovery in 2012 highlighted that the ATP1A3 gene causes approximately 70-80% of cases. [10]  Additionally, the ATP1A3 gene is expressed in the heart leading to a risk of arrhythmias and possible sudden death. It is like living with many different neurological diseases in one. Epileptic seizures and seizure-like episodes may appear at different ages, from early infancy to late adulthood.[7]. These hemiplegic attacks can cause anything from mild weakness to complete paralysison one or both sides of the body, and they can vary greatly in duration. [4, 29, 30, 31, 32, 33]. Ultra-Rare Neuro Condition Since then, research studies into AHC genotype-phenotype correlations, cardiac disturbances, secondary genes for AHC, and testing candidate compounds for AHC treatment (using in-vitro and in-vivo models) have been initiated. 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