DYT33: Dystonia 33

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT33: Dystonia 33. This results from mutations in the EIF2AK2 gene on chromosome 2. Fully referenced neurology checklist.

Genetics

  • This results from mutations in the EIF2AK2 gene on chromosome 2
  • The transmission may be autosomal dominant or recessive

Clinical features

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

Treatment

Locked: subscribe to see this section.

References

  1. Kuipers DJS, Mandemakers W, Lu CS, et al. EIF2AK2 missense variants associated with early onset generalized dystonia. Ann Neurol 2021; 89:485-497. 
  2. Magrinelli F, Moualek D, Tazir M, et al. Heterozygous EIF2AK2 variant causes adolescence-onset generalized dystonia partially responsive to DBS. Mov Disord Clin Pract 2021; 9:268-271.
  3. Musacchio T, Zech M, Reich MM, Winkelmann J, Volkmann J. A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia. Ann Neurol 2021; 89:1257-1258.

Related checklists

Loading...