Hypermanganesaemia with dystonia 1 (HMNDYT1): differential diagnosis

Evidence-based neurology checklist on hypermanganesaemia with dystonia 1 (hmndyt1): differential diagnosis: HMNDYT2 This is caused by mutations in the SLC39A14 gene It has an earlier onset age than HMNDYT1 It is associated with childhood-onset parkinsonism-dystonia The onset is with axial…

HMNDYT2

  • This is caused by mutations in the SLC39A14 gene
  • It has an earlier onset age than HMNDYT1
  • It is associated with childhood-onset parkinsonism-dystonia
  • The onset is with axial hypotonia
  • There is subsequent development of dystonia, spasticity, and dysarthria
  • There is no associated liver disease or polycythaemia
  • The MRI findings are similar to HMNDYT1: high signal on T1 sequences

CDG2N-SLC39A8 deficiency

Environmental causes of brain manganese deposition

Synonym

References

  1. Anagianni S, Tuschl K. Genetic disorders of manganese metabolism. Curr Neurol Neurosci Rep 2019; 19:33. 
  2. Tuschl K, Meyer E, Valdivia LE, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun 2016; 7:11601.
  3. Stamelou May, Tuschl K, Chong WK, et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord 2012; 27:1317-1322.
  4. Padmanabha H, Krishnamurthy S, Sharath Kumar GG, Chikkanayakana I, Sethuraman A, Mathew T. Teaching NeuroImages: an imaging clue for treatable early childhood-onset dystonia: manganism. Neurology 2019; 92:e628-e629.
  5. Sen S, Flynn MRI, Du G, Troster AI, An H, Huang X. Manganese accumulation in the olfactory bulbs and other brain regions of "asymptomatic" welders. Toxicological Sci 2011; 121:160-167.
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