Dystonia

INDEX

With prominent oro-mandibular involvement

 

 


     Differential Diagnosis


     Investigations to consider
     PKAN      PANK2 gene, iron deposition on MRI
     PLA2G6-associated neurodegeneration      PLA2G6 gene
     Neuroacanthocytosis      Acanthocytes screen, protein assay, VPS13A gene test
     Neuroferritinopathy      FTL gene, iron deposition on MRI
     Lesch-Nyhan disease      Serum and urinary uric acid, HPRT1 gene

 

 

 

 

 

 

 

 

 

 

 

References

  1. Schneider SA, Bhatia KP. Secondary dystonia--clinical clues and syndromic associations. Eur J Neurol. 2010 Jul;17 Suppl 1:52-7. doi: 10.1111/j.1468-1331.2010.03051.x. PMID: 20590809.
  2. Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549. PMID: 23893445; PMCID: PMC4216675.