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Results 1 - 10 of 24 for Dystonia 16
  1. Dystonia 16 
    Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary ... muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
  2. Myoclonus-dystonia 
    ... Blake DJ. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. 2007 Feb 1;16(3):327-42. doi: 10.1093/hmg/ddl472. ...
    https://medlineplus.gov/genetics/condition/myoclonus-dystonia - Genetics
  3. Hypermanganesemia with dystonia 
    ... Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  4. Tyrosine hydroxylase deficiency 
    ... hydroxylase deficiency (also called TH-deficient dopa-responsive dystonia), symptoms usually appear during childhood. Affected individuals may ... signs and symptoms may include involuntary muscle contractions (dystonia) that lead to abnormal repetitive movements in the ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  5. Benign essential blepharospasm 
    ... the eyelids. This condition is a type of dystonia, which is a group of movement disorders that ... 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. Autosomal dominant nocturnal frontal lobe epilepsy 
    ... Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Feldman ...
    https://medlineplus.gov/...-dominant-nocturnal-frontal-lobe-epilepsy - Genetics
  7. Beta-propeller protein-associated neurodegeneration 
    ... dementia). Worsening problems with movement also occur, including dystonia and parkinsonism. Dystonia is a condition characterized by involuntary, sustained muscle ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  8. 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
  9. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... related mtDNA depletion syndrome can include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  10. Pelizaeus-Merzbacher disease 
    ... neck tremors (titubation), involuntary tensing of the muscles (dystonia), and jerking (choreiform) movements.Connatal Pelizaeus-Merzbacher disease ... j.jns.2004.10.010. Epub 2004 Dec 16. No abstract available. Citation on PubMed Inoue K. ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
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