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Results 1 - 10 of 134 for Dystonia 1
  1. TOR1A gene 
    ... onset dystonias. More About This Health Condition DQ2 Dystonia 1 protein dystonia 1, torsion (autosomal dominant; torsinA) DYT1 TOR1A_HUMAN torsin ... TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb;12(1):11-24. doi: 10.1016/s0969-9961(02) ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  2. Hypermanganesemia with dystonia 
    ... features.In HMDPC (also known as hypermanganesemia with dystonia 1), manganese accumulates in the blood, brain, and liver. ... National Organization for Rare Disorders (NORD) HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1 HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2 PubMed Mukhopadhyay ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  3. Early-onset isolated dystonia 
    ... onset dystonia National Organization for Rare Disorders (NORD) DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 PubMed Albanese A, Bhatia ... Rothwell J, Jankovic J, Vidailhet M, Bhatia KP. Dystonia. Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  4. SLC30A10 gene 
    ... and cirrhosis (HMDPC, also known as hypermanganesemia with dystonia 1). This inherited disorder is characterized by high levels ... PT, Gospe SM Jr, Mills PB. Hypermanganesemia with Dystonia 1. 2012 Aug 30 [updated 2021 Dec 23]. In: ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  5. Dopamine transporter deficiency syndrome 
    ... parkinsonism National Organization for Rare Disorders (NORD) PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1 PubMed Blackstone C. Infantile parkinsonism- ...
    https://medlineplus.gov/.../dopamine-transporter-deficiency-syndrome - Genetics
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan ... Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by ... complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. TIMM8A gene 
    ... Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan ... Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by ... complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  8. GCH1 gene 
    ... Condition DYT5 DYT5a GCH GCH1_HUMAN GTP cyclohydrolase 1 (dopa-responsive dystonia) GTPCH1 Tests of GCH1 PubMed GTP CYCLOHYDROLASE I; ... M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  9. Musician's Dystonia (Dystonia Medical Research Foundation)  
    ... number of occupational conditions, including task-specific focal dystonia.Experts estimate about 1% of professional musicians are affected by dystonia, but ...
    https://dystonia-foundation.org/.../types-dystonia/musicians - External Health Links
  10. Dopa-responsive dystonia 
    ... and do not show diurnal fluctuations. Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is ... M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
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