DYT28: Dystonia 28

Evidence-based neurology checklist on dyt28: dystonia 28: Genetics This is caused by mutations in the KMT2B gene on chromosome 19 The transmission is autosomal dominant It causes infantile or childhood onset dystonia Clinical features Dysmorphic features Associated features Magnetic resonance…

Genetics

  • This is caused by mutations in the KMT2B gene on chromosome 19
  • The transmission is autosomal dominant
  • It causes infantile or childhood onset dystonia

Clinical features

Dysmorphic features

Associated features

Magnetic resonance imaging (MRI) brain

Treatment

References

  1. Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 2017; 49:223-237. 
  2. Zech M, Boesch S, Maier EM, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2b, results in early-onset generalized dystonia. Am J Hum Genet 2016; 99:1377-1387.
  3. Siow SF, Kumar KR. New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B). Mov Disord 2017; 32:395.
  4. Peall KJ, Robertson NP. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. J Neurol 2017; 264:616-618. 
  5. Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord 2019; 34:1516-1527. 
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