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Results 1 - 10 of 27 for Dystonia 18
  1. GLUT1 deficiency syndrome 
    ... dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  2. Dystonia 6 
    ... SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis. ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  3. Tyrosine hydroxylase deficiency 
    ... hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive ... Nov 18. Citation on PubMed Pearl PL, Taylor JL, Trzcinski ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  4. Alternating hemiplegia of childhood 
    ... begin in infancy or early childhood, usually before 18 months of age, and the ... tensing (dystonia), movement of the eyes (nystagmus), or shortness of ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  5. Benign essential blepharospasm 
    ... the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving ... people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial ...
    https://medlineplus.gov/.../condition/benign-essential-blepharospasm - Genetics
  6. Isolated sulfite oxidase deficiency 
    ... usually begins between the ages of 6 and 18 months, often after an illness ... uncontrolled movements of the limbs (choreoathetosis), and difficulty ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
  7. Aromatic l-amino acid decarboxylase deficiency 
    ... muscle contractions that may cause unusual body positions (dystonia) and writhing movements of the limbs (athetosis). Dystonia tends to become worse when the individual is ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  8. CASK-related intellectual disability 
    ... problems such as involuntary tensing of various muscles (dystonia) may also occur in this form of the ... Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Citation ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  9. Infantile neuroaxonal dystrophy 
    ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9): ... PLA2G6 gene (PLAN). Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986. ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  10. Biotin-thiamine-responsive basal ganglia disease 
    ... and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both ... individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
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