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










See alsoProgressive dystonia with normal brain MRI or generalised atrophy












  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.