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L'emicrania emiplegica familiare è una rar … L'emicrania emiplegica familiare è una rara malattia genetica autosomica dominante, caratterizzata da attacchi di emicrania che comprendono tipicamente emiparesi (debolezza della metà del corpo) che può durare per ore, giorni o settimane. Essa può essere considerata come una variante più grave dell'emicrania con aura, accompagnata da altri sintomi, come l'atassia, il coma e la paralisi. Ci sono 3 loci noti per la condizione: FHM1, che rappresenta circa il 50% dei pazienti ed è causata da mutazioni in un gene che codifica per un canale del calcio P/Q α subunità, CACNA1A. FHM1 è anche associato a degenerazione cerebellare. FHM2, che rappresenta meno dei 25% dei casi di emicrania emiplegica familiare, ed è causata da mutazioni gene ATPasi della pompa sodio-potassio. L'FHM3 è un raro sottotipo ed è causata da mutazioni in un gene codificante il canale del sodio α-subunità, SCN1A. Questi tre sottotipi non tengono conto di tutti i casi della condizione, suggerendo l'esistenza di almeno un altro locus (FHM4). Molti dei casi non familiari di emicrania emiplegica (emicrania emiplegica sporadica) sono anche causati da mutazioni in questi loci.Tuttavia, pur trattandosi in ogni caso di una malattia genetica, il 30 % dei malati non presentano alterazioni nei geni individuati. In tali casi sono ancora in corso ricerche.n tali casi sono ancora in corso ricerche.
, La migraine hémiplégique familiale est une … La migraine hémiplégique familiale est une forme rare de migraine avec aura. Dans ce type de migraine, les manifestations neurologiques sont celles d'une atteinte du cortex ou du tronc cérébral et comprennent des troubles de la vision, des déficits sensoriels (paresthésie de la face ou des extrémités) et des troubles de la parole. Mais la migraine hémiplégique familiale se caractérise, en plus de ces symptômes, par des signes d'atteintes motrices comme une hémiparésie. L'hémiparésie doit apparaître avec au moins un des signes de migraine avec aura. Le déficit neurologique peut durer beaucoup plus longtemps que les signes de la migraine (des heures ou des jours). Une persistance du déficit avec trouble de la mémoire est possible pendant des mois bien qu'un infarctus cérébral surviennent rarement. La migraine hémiplégique familiale est souvent de début beaucoup plus précoce qu'une migraine typique. La fréquence des crises diminue avec l'âge. La moitié des familles atteintes par cette pathologie ont des signes discrets de déficit cérébelleux. Les séquelles sont rares dans cette pathologie bien que quelques individus verront apparaître un syndrome cérébelleux. On distingue au moins trois types de migraine hémiplégique familiale :
* le type 1 (50 % des cas) lié à une mutation du gène CACNA1A codant la sous-unité α du canal calcique dépendant du voltage P/Q ; cette forme est associée à une dégénérescence cérébelleuse ;
* le type 2 (moins de 25 % des cas) lié à une mutation du gène locus 1q25-q31 codant la protéine Na+/K+ATPase transporteur ionique qui utilise l’ATP comme énergie pour extraire l'ion Na+ et permettre l'entrée de l'ion K+ dans les cellules à travers la membrane ;
* le type 3 lié à une mutation du gène SCN1A locus 6p12.2-p21.1 codant la sous-unité α du canal sodique. Ces trois sous-types ne représentent pas tous les cas de FHM, suggérant l'existence d'au moins un autre locus (MHF4). Le diagnostic repose sur l'association de migraine avec aura, de déficits neurologiques et d'histoire familiale de parent atteint au premier degré.iliale de parent atteint au premier degré.
, Familial hemiplegic migraine (FHM) is an a … Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head trauma. Some cases of minor head trauma in patients with hemiplegic migraine can develop into delayed cerebral edema, a life-threatening medical emergency. Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood. Three genetic loci for FHM are known. FHM1, which accounts for about 50% of FHM patients, is caused by mutations in a gene coding for the P/Q-type calcium channel α subunit, CACNA1A. FHM1 is also associated with cerebellar degeneration. FHM2, which accounts for less than 25% of cases, is caused by mutations in the Na+/K+-ATPase gene ATP1A2. FHM3 is a rare subtype of FHM and is caused by mutations in a sodium channel α-subunit coding gene, SCN1A. These three subtypes do not account for all cases of FHM, suggesting the existence of at least one other locus (FHM4). Also, nonfamilial cases of hemiplegic migraine are seen, termed sporadic hemiplegic migraine. These cases seem to have the same causes as the familial cases and represent de novo mutations. Sporadic cases are also clinically identical to familial cases with the exception of a lack of known family history of attacks.a lack of known family history of attacks.
, Гемиплегическая мигрень — относительно ред … Гемиплегическая мигрень — относительно редкая разновидность мигрени, при которой появляется повторяющаяся временная слабость с одной стороны тела (гемиплегия — понятие, обозначающее паралич мышц одной половины тела). Как правило, гемиплегическая мигрень обнаруживается у пациентов, родители которых были подвержены точно таким же приступам. Лечение этой формы мигрени, как правило, не отличается от методики лечения обычной или офтальмической мигрени. Перед тем, как установить диагноз «гемиплегическая мигрень», необходимо исключить другие причины возникновения приступов мышечной слабости. Для этого достаточно получить результаты обследования пациента на компьютерном томографе.ования пациента на компьютерном томографе.
, الصداع النصفي الفالجي العائلي أو الشقيقة ا … الصداع النصفي الفالجي العائلي أو الشقيقة الفالجية (بالإنجليزية: Familial hemiplegic migraine) هو أحد أنواع الصداع النصفي الذي سببه صفة وراثية سائدة ويصاحبه خزل شقي من الممكن أن يستمر ساعات أو أياما أو أسابيع. ومن الأعراض التي من المحتمل ظهورها: رنح أو غيبوبة أو شلل.ي من المحتمل ظهورها: رنح أو غيبوبة أو شلل.
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Гемиплегическая мигрень — относительно редкая разновидность мигрени, при которой появляется повторяющаяся временная слабость с одной стороны тела (гемиплегия — понятие, обозначающее паралич мышц одной половины тела).
, Familial hemiplegic migraine (FHM) is an a … Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head trauma. Some cases of minor head trauma in patients with hemiplegic migraine can develop into delayed cerebral edema, a life-threatening medical emergency. Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood., and alternating hemiplegia of childhood.
, L'emicrania emiplegica familiare è una rar … L'emicrania emiplegica familiare è una rara malattia genetica autosomica dominante, caratterizzata da attacchi di emicrania che comprendono tipicamente emiparesi (debolezza della metà del corpo) che può durare per ore, giorni o settimane. Essa può essere considerata come una variante più grave dell'emicrania con aura, accompagnata da altri sintomi, come l'atassia, il coma e la paralisi. Ci sono 3 loci noti per la condizione: FHM1, che rappresenta circa il 50% dei pazienti ed è causata da mutazioni in un gene che codifica per un canale del calcio P/Q α subunità, CACNA1A. FHM1 è anche associato a degenerazione cerebellare. FHM2, che rappresenta meno dei 25% dei casi di emicrania emiplegica familiare, ed è causata da mutazioni gene ATPasi della pompa sodio-potassio. L'FHM3 è un raro sottotiposodio-potassio. L'FHM3 è un raro sottotipo
, La migraine hémiplégique familiale est une … La migraine hémiplégique familiale est une forme rare de migraine avec aura. Dans ce type de migraine, les manifestations neurologiques sont celles d'une atteinte du cortex ou du tronc cérébral et comprennent des troubles de la vision, des déficits sensoriels (paresthésie de la face ou des extrémités) et des troubles de la parole. Mais la migraine hémiplégique familiale se caractérise, en plus de ces symptômes, par des signes d'atteintes motrices comme une hémiparésie. On distingue au moins trois types de migraine hémiplégique familiale :types de migraine hémiplégique familiale :
, الصداع النصفي الفالجي العائلي أو الشقيقة ا … الصداع النصفي الفالجي العائلي أو الشقيقة الفالجية (بالإنجليزية: Familial hemiplegic migraine) هو أحد أنواع الصداع النصفي الذي سببه صفة وراثية سائدة ويصاحبه خزل شقي من الممكن أن يستمر ساعات أو أياما أو أسابيع. ومن الأعراض التي من المحتمل ظهورها: رنح أو غيبوبة أو شلل.ي من المحتمل ظهورها: رنح أو غيبوبة أو شلل.
|
| rdfs:label |
Emicrania emiplegica familiare
, Familial hemiplegic migraine
, صداع نصفي فالجي عائلي
, Migraine hémiplégique familiale
, Гемиплегическая мигрень
|
