Hemiplejía Alternante de la Infancia en la población española. Canalopatías en pediatría: hemiplejías episódicas, Archivos argentinos de pediatría, (in. Alternating hemiplegia of childhood (AHC, OMIM ) is a rare, severe neurological disorder of unknown etiology, characterized by. Jesús Eiris, Juan José García Peñas, Hemiplejía alternante de la infancia en la población o de una serie de 17 pacientes, Medicina Clínica.

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For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Alternating hemiplegia of childhood AHC is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

Onset occurs before 18 months of age.

Paroxysmal ocular motor abnormalities episodic nystagmus or deviation are a frequent and early often in the first 3 months of life sign but often go unrecognized. Repeated episodes of hemiplegia lasting from a few minutes to several days and involving either side of the body are the alternate prominent early manifestation.

Episodes of bilateral hemiplegia or quadriplegia also occur, either as a generalization of a hemiplegic attack or as a bilateral event from the onset. Other paroxysmal findings, occurring in isolation or during hemiplegic attacks, include tonic episodes, focal or unilateral attacks of dystonia often occurring in the first 6 months of lifedyspnea and autonomic phenomena.

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Episodes can be triggered by a range of factors: Episodic manifestations disappear immediately during sleep but may recur shortly after waking during long-lasting attacks. Other neurological manifestations include epilepsy, developmental delay, intellectual deficit, choreoathetosis, dystonia and ataxia.

The etiology remains unclear. Mutations in the CACNA1A hemiplejixSLC1A3 5p13 and ATP1A2 1qq23 genes have been identified in some cases but these patients generally presented with alternating hemiplegia associated with an atypical clinical picture and no mutations in any of these genes are detected in the majority of AHC patients. Diagnosis is primarily clinical with criteria for early diagnosis including onset of dystonic or hemiplegic events in the first 6 months of life, paroxysmal eye movements in the first 3 months of life and electroencephalography EEG studies revealing an absence of epileptiform changes apternante ictal events.

AHC remains a diagnosis of exclusion, often requiring extensive examinations: Currently, no specific treatment is available for AHC patients and they should be managed by a a,ternante team with treatment strategies including prophylactic measures such as avoiding triggersacute management of attacks including early induction of sleepepilepsy management and educational therapy. Other search option s Alphabetical list.

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Documents and scientific articles – Aesha – AHC Spain

Check this box if you wish to receive a copy of hemipeljia message. Disease definition Alternating hemiplegia of childhood AHC is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

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InfancyNeonatal ICD Summary Epidemiology Annual incidence is estimated at 0. Clinical description Onset occurs before 18 months of age.

Etiology The etiology remains unclear. Diagnostic methods Diagnosis is primarily clinical with criteria for early diagnosis including onset of dystonic or hemiplegic events in the first 6 months of life, paroxysmal eye movements in the first 3 months of life and electroencephalography EEG studies revealing an absence of epileptiform changes during ictal events.

Management and treatment Currently, no specific treatment is available for AHC patients and they should be managed by a multidisciplinary team with treatment strategies including prophylactic measures such as avoiding triggershmeiplejia management of attacks including early induction of sleepepilepsy management and educational therapy.

Prognosis AHC has an unrelenting disease course and the outcome is generally poor. Additional information Further information on this disease Classification s 2 Gene s 4 Other website s 4. Health care resources for this disease Expert centres 71 Diagnostic tests 24 Patient organisations 28 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.