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Results 1 - 10 of 24 for Dystonia 27
  1. Hypermanganesemia with dystonia 
    ... disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Citation on ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. Dystonia 6 
    ... R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1;27(10):1290-4. doi: 10.1002/mds.25146. ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  3. Deafness-dystonia-optic neuronopathy syndrome 
    ... Tranebjaerg L, Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  4. ADCY5-related dyskinesia 
    ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Citation on PubMed Chen DH, Meneret A, Friedman ...
    https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia - Genetics
  5. Dopa-responsive dystonia 
    ... 7. Erratum In: J Child Neurol. 2012 Jun;27(6):829-31. Citation on PubMed Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke L, Muller U. Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosurg Psychiatry. 2008 Feb;79(2): ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  6. Sepiapterin reductase deficiency 
    ... pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), ... signs and symptoms of the condition. Dopa-responsive dystonia due to sepiapterin reductase deficiency SPR deficiency Genetic ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  7. Familial paroxysmal kinesigenic dyskinesia 
    ... An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements ... affected person has one parent with the condition. Dystonia 10 Episodic kinesigenic dyskinesia Familial paroxysmal dystonia Paroxysmal ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  8. Primary familial brain calcification 
    ... brain calcification include involuntary tensing of various muscles (dystonia), uncontrollable movements of the limbs (choreoathetosis), and an ... doi: 10.1002/mds.27582. Epub 2018 Dec 27. Citation on PubMed Grutz K, Volpato CB, Domingo ...
    https://medlineplus.gov/.../primary-familial-brain-calcification - Genetics
  9. Fatty acid hydroxylase-associated neurodegeneration 
    ... exaggerated reflexes. They typically have involuntary muscle cramping (dystonia), problems with coordination and balance (ataxia), or both. ... are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5): ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  10. Succinate-CoA ligase deficiency 
    ... of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ...
    https://medlineplus.gov/.../succinate-coa-ligase-deficiency - Genetics
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