Malattia di Huntington: malattia genetica rara
Che cos’è la malattia di Huntington?
Malattia di Huntington è una malattia degenerativa progressiva a ereditarietà autosomica dominante, caratterizzata da alterazioni della funzione motoria, comportamentale e cognitiva. Insorge tipicamente tra i 25 e i 45 anni e il suo segno patognomonico è la presenza di movimenti coreici involontari rapidi, disordinati e parzialmente finalizzati, spesso associata a disartria, disturbi della marcia e dei movimenti oculari.
Quali sono i sintomi della malattia di Huntington?
Gli stadi più avanzati sono caratterizzati da una riduzione della corea con insorgenza di:
- Distonia
- Rigidità
- Bradicinesia
- Mioclono
- Spasticità
I pazienti con malattia di Huntington sviluppano, nelle fasi terminali, anche disturbi del comportamento e alterazioni cognitive, che possono essere la principali cause di disabilità. E’ una malattia autosomica dominante causata da un’espansione del numero di triplette poliglutamminiche (CAG) nella sequenza codificante del gene Huntington sul cromosaoma 4.
Come avviene la diagnosi della malattia di Huntington ?
E’ disponibile il test genetico per diagnosticare la malattia di Huntington. In un soggetto anche privo di sintomi si può effettuare l’indagine genetica di ricerca del gene mutato su un semplice prelievo di sangue che consente di accertare la presenza o l’assenza della mutazione nel gene IT-15. La decisione di sottoporsi al test coinvolge non solo il singolo individuo ma anche la sua famiglia (coniuge, figli, fratelli).
Come può essere curata la malattia di Huntington?
Il trattamento prevede un approccio multidisciplinare con consulenze neuropsichiatre, sociali e genetiche per i pazienti e le loro famiglie. Gli antidopaminergici possono controllare la corea ma aggravare i sintomi motori, e spesso si associano a un rischio eccessivo di effetti collaterali. La psicosi può essere trattata con neurolettici atipici. Attualmente non esistono farmaci in grado di modificare la storia naturale della malattia.
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- Malattie rare, dal Ministero della Salute oltre 520 milioni per il potenziamento della ricerca biomedica
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