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La malattia colpisce un bambino su diecimila e i primi sintomi sono una difficoltà di apprendimento del linguaggio e una difficoltà a coordinare i movimenti.
La sindrome di Rett prende il nome dal suo scopritore, Andreas Rett, un medico di origine austriaca che per primo ne parlò nel 1966.
La patologia si manifesta con un arresto della crescita e successivamente una regressione che porta alla perdita delle capacità fino a quel momento acquisite.
Prima di tutto di vede un arresto dello sviluppo del cranio rispetto al resto del corpo e un blocco dello sviluppo psicomotorio che fa perdere le capacità acquisite in precedenza.
Oltre a ciò si manifestano irregolarità respiratorie, aumento della rigidità muscolare e crisi epilettiche; questa patologia dovrebbe essere dovuta ad un’anomalia del gene MECP2, che si trova sulla parte distale del cromosoma X.
Attualmente non esiste una cura definitiva per questa malattia, ma il decorso riesce ad essere modificato da una varietà di terapie, che hanno lo scopo di ritardare la progressione della disabilità motoria e a migliorare le capacità di comunicazione verbale.
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