Observations in DYT-TUBB4A dystonia


  • Laryngeal involvement is a key feature of DYT-TUBB4A; however, TUBB4A mutations remain an inordinately rare cause of laryngeal or other isolated dystonias.

Why this matters

  • DYT-TUBB4A (DYT4), comprising laryngeal and cervical dystonia, is an extremely rare disorder caused by a heterozygous missense mutation (R2G) in exon 1 of the TUBB4A gene, only described in one family plus two individuals; therefore, very little is known about it.

    Identification of novel mutations with similar clinical profiles to the originally reported DYT-TUBB4A dystonia is vital for enhancing medical understanding of this condition, as well as development of potential diagnostic markers; and eventually therapeutic strategies aimed at improving outcomes for these patients.