" /> Dystonia 4, torsion, autosomal dominant - CISMeF





Preferred Label : Dystonia 4, torsion, autosomal dominant;

Symbol : DYT4;

CISMeF acronym : DYT4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Whispering dysphonia, hereditary; Dystonia musculorum deformans 4;

Description : Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin, beta-4A gene (TUBB4A, 602662.0001);

Prefixed ID : #128101;

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27/07/2025


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