Dystonia

INDEX

 


     Differential Diagnosis


     Investigations to consider

     GM1, GM2 gangliosidosis      Urine oligosaccharides; Mutations in the beta-galactosidase HEX-A and HEX-B gene, enzymatic function test
     Glutaric acidemia      DDP1 gene
     Huntington s disease      C2orf37 gene
     Huntington s disease look-alike disorders (e.g. Prion disease, SCA17)      PRNP gene, JPH3 gene, TBP gene
     CJD  

 

 

 

 

 

 

 

 

 

See alsoProgressive dystonia with normal brain MRI or generalised atrophy

 

 

 

 

 

 

 

 

 

 

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.