Dystonia

INDEX

 

OCULOMOTOR ABNORMALITIES


     Differential Diagnosis


     Investigations to consider

     Nieman-Pick type C (supranuclear gaze palsy)      NPC1 and NCP2 gene
     Huntington s disease (apraxic eye movements)      IT15 / HD gene
     Ataxia telengiectasia (apraxic eye movements)      Alpha-fetoprotein, in vitro radiosensitivity, ATM levels on western blotting, ATM gene
     Kufor-Rakeb disease      ATP13A2 gene

 

 

 

 

 

 

 

 

 

RETINITIS PIGMENTOSA


     Differential Diagnosis


     Investigations to consider

     PKAN      PANK2 gene, iron deposition on MRI
     GM2 gangliosidosis      Urine oligosaccharides, HEX-A and HEX-B genes, enzymatic function test
     Metachromatic leukodystrophy      White cell enzymes, arylsulfatase A gene
     HARP Syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, RP, Pallidal Degeneration)      

 

 

 

 

 

 

 

 

See also:  Dystonia with Ophthalmological Abnormalities

 

 

 

 

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.