torsion dystonia 4

Term ID

DOID:0090041

Synonyms

Definition

A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (2)

References

• ICD10CM:G24.1
• OMIM:128101
• ORDO:98805

Ontology

Human Disease   ( DOID:0090041 )