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;
Origin ID : 128101;
UMLS CUI : C1851943;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)