DYT18: Paroxysmal exercise-induced dyskinesia (PED)

Evidence-based neurology checklist on dyt18: paroxysmal exercise-induced dyskinesia (ped): Genetics This is caused by mutations in the SLC2A1 gene on chromosome 1 The transmission is autosomal dominant It is also known as GLUT 1 deficiency syndrome 2 (GLUT1DS2) It is allelic with DYT9 It causes…

Genetics

  • This is caused by mutations in the SLC2A1 gene on chromosome 1
  • The transmission is autosomal dominant
  • It is also known as GLUT 1 deficiency syndrome 2 (GLUT1DS2)
  • It is allelic with DYT9
  • It causes childhood onset triggered dyskinesias

Clinical features

Triggers

Associated features

Cerebrospinal fluid (CSF)

Treatment

References

  1. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
  3. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.
  4. Plant GT, Williams AC, Earl CJ, Marsden CD. Familial paroxysmal dystonia induced by exercise. JNNP 1984; 47:275-279.
  5. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008; 118:2157-2168. 
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