2011;108(44):18144–9. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. J Child Neurol. Alternating Hemiplegia of Childhood (AHC): AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. 1 This weakness may affect all the muscles or some muscles of the body. Viollet L et al. Mikati MA et al. 1993;122(5):673–9. 2016;11(1):55. Alternating Hemiplegia is a rare pathological condition of the musculoskeletal system in which a child has episodes of severe weakness affecting one side of the body. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 1973;23(7):734–44. 1997;247(1):35–41. Demos MK et al. Neurobiol Dis. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 2011;108(44):18144–9. 1995. p. 109–114. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. Neuropediatrics. 2015;5:336. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. As the awareness of the disease expands and the availabil-ity of gene testing becomes more accessible, the number of patients and the frequency of its occur- Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012 ). We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. These include its rarity of about one case per million, the variability of the manifestations, with seven characteristic features, and the potential for Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Pediatr Neurol. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical … Heinzen EL et al. Eur Arch Psychiatry Clin Neurosci. Orphanet J Rare Dis. Yang X et al. 1971;47(4):675–80. 2006;37(4):229–33. J Child Neurol. 2012;44(9):1030–4. J Pediatr. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. Part of Springer Nature. Alternating hemiplegia of childhood is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. Immediate online access to all issues from 2019. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Neurology. Haffejee S, Santosh PJ. Up to 50 percent of children with AHC develop “true seizures” sometime during the course of their illness. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. 2015;57(12):1183–6. Alternating hemiplegia of childhood or familial hemiplegic migraine? “True seizures” can be distinguished by characteristic findings on an EEG, and may be asso… This article does not contain any studies with human or animal subjects performed by any of the authors. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. This study described the, to date, the mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it. Neurology. Yang X et al. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. Genotype-phenotype correlations in alternating hemiplegia of childhood. PET scan findings in alternating hemiplegia of childhood. Cornelio-Nieto JO et al. Chi LY et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Holm TH et al. Alternating hemiplegia of childhood: retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. Epilepsia. 2015;56(3):422–30. Ju J et al. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. This is a preview of subscription content, access via your institution. Article  Children with AHC often have a wide range of other symptoms, including other types of abnormal movements. Ann Neurol. Article  Orphanet J Rare Dis. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] Learn more about Institutional subscriptions. Pediatr Neurol. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Neurology. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. 2012;11(9):764-73. Bassi MT et al. Andermann E et al. Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and … Characterization and Analysis of Inter-relationships of Motor Function Domains in Patients with Alternating Hemiplegia of Childhood. © 2021 Springer Nature Switzerland AG. Carlson CB, Harvey FH, Loop J. 2010;133(Pt 12):3598–610. Alternating Hemiplegia of Childhood (AHC): AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. Carlson CB, Harvey FH, Loop J. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. Alternating hemiplegia of childhood has many factors that make it difficult to manage. Swoboda KJ et al. Sweney MT, Newcomb TM, Swoboda KJ. 2000;23(2):134–41. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. Dev Med Child Neurol. Diagnosis and Treatment of Alternating Hemiplegia of Childhood. 2000;15(2):128–30. PLoS ONE. 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. 2014;9(5):e97274. Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. West Afr J Med. © 2021 Springer Nature Switzerland AG. Google Scholar. Roubergue A et al. The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. PubMed  Jiang W et al. The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Chi LY et al. Mohamad A. Mikati reports grants from Cure AHC, the Dutch AHC and the Irish AHC foundations during the conduct of the study. 2015;10:123. Tanner GR et al. Distinct neurological disorders with ATP1A3 mutations. Dev Med Child Neurol. Treatment of alternating hemiplegia of childhood with aripiprazole. Paciorkowski AR et al. We thank the Irish and the Dutch AHC foundations for support of our lab research. J Med Genet. 2015;37(9):907–10. 2011;30(2):140–4. The majority of cases (approximately 80%) are caused by mutations in the gene ATP1a3, as well as other potential genetic root causes, which Cure AHC funds active research to discover. 2011;519(2):376–404. •• Rosewich H et al. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 2004;55(6):884–7. Subscription will auto renew annually. Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). Int J Neurosci. 2014;9(5):e97274. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not. Google Scholar. A broad differential diagnosis is necessary when considering this condition. CAS  Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. 2015;10(5):e0127045. PubMed  Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, abnormalities of ocular movement, movement disorders, and progressive developmental delay. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Ohnishi T et al. Vila-Pueyo M et al. 2 Centre for Interventional Paediatric Psychopharmacology, Department ofChild& 2011;519(2):376–404. 2015;37(9):907–10. Alternating hemiplegia of childhood or familial hemiplegic migraine? The prevalence is 1 in a million, and it was first reported in the medical literature in 1971. PubMed Central  Ann Neurol. Proc Natl Acad Sci U S A. Google Scholar. •• Rosewich H et al. Pediatrics. Description. J Neurol Sci. Alternating hemiplegia of childhood. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. This article is part of the Topical Collection on Pediatric Neurology, Masoud, M., Prange, L., Wuchich, J. et al. 2012;122(9):506–10. Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. Swoboda KJ et al. •• Jaffer F et al. 2006;37(4):229–33. Andermann E et al. Alternating hemiplegia of childhood treatment No specific therapy exists for individuals with alternating hemiplegia of childhood. J Child Neurol. Distinct neurological disorders with ATP1A3 mutations. Article  During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. The disorder is characterized by recurrent episodes of paralysis on one side of the body. Wong VC, Kwong AK. J Comp Neurol. AHC (Alternating Hemiplegia of Childhood) is a complex, ultra-rare neurological disease. 2000;23(2):134–41. Duke University Children Health Center, 2301 Erwin Rd., Durham, NC, 27710, USA, Melanie Masoud BA, Lyndsey Prange CPNP, Arsen Hunanyan PhD & Mohamad A. Mikati MD, Cure AHC, Inc., 545 Irina Drive, Rolesville, NC, 27571, USA, You can also search for this author in A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 2007;49(10):777–80. PubMed Central  Sci Rep. 2016;6:31972. 2001;23(5):303–5. [1] A groundbreaking discovery in 2012 highlighted that the ATP1A3 gene causes approximately 70-80% of cases. J Med Genet. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Diagnosis and Treatment of Alternating Hemiplegia of Childhood. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. Neurology. 1995. p. 125–134. Masoud M et al. Wong VC, Kwong AK. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. JIMD Rep. 2015;15:7–12. Child neurology: alternating hemiplegia of childhood. 1998;19(1):65–8. Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. 2015;77:88–93. 1992;42(12):2251–7. It causes recurring episodes of hemiplegia that affect one or both sides of the body. Pediatr Neurol. Treatment is directed toward the specific symptoms apparent in each individual. Badoe EV. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. 2012;44(9):1030–4. Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform. Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children before 18 months of age. 1 A wide range of other symptoms can also accompany the hemiplegic episodes, 2010;74(14):e57–9. Haffejee S, Santosh PJ. Topiramate: a new agent for patients with alternating hemiplegia of childhood. Mohamad A. Mikati MD. Benign familial nocturnal alternating hemiplegia of childhood. Children with AHC often have a delay in diagnosis or are misdiagnosed. •• Heinzen EL et al. Lancet Neurol. Orphanet J Rare Dis. CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. Flunarizine for treatment of partial seizures: results of a concentration-controlled trial. Neurobiol Dis. Correspondence to Nat Genet. PubMed  The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not. J Child Neurol. Developmental Medicine and Child Neurology, in press. 2015;56(1):82–93. Saito Y et al. A novel ATP1A2 mutation. 2009;51(1):74–7. PubMed Central  1995. p. 125–134. Lancet Neurol. Haffejee S(1), Santosh PJ. Pledger GW et al. Author information: (1)Paediatric Liaison Team, Royal London Hospital, Whitechapel, London, UK. J Neurosci. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). Brain. Immediate online access to all issues from 2019. Mohamad A. Mikati MD. This is a preview of subscription content, access via your institution. •• Hunanyan AS et al. Montagna P et al. 2015;30(13):1749–56. Saito Y et al. Neuropediatrics. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. 2015;56(1):82–93. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Sasaki M et al. Heinzen EL et al. Bol Med Hosp Infant Mex. Progressive alternating hemiplegia in early childhood and basal arterial stenosis and telangiectasia (moyamoya syndrome). 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