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Results 1 - 8 of 8 for Torsion dystonia 6
  1. Dystonia 6 
    ... mixed type Primary dystonia, DYT6 type THAP1 dystonia Torsion dystonia 6 Genetic Testing Registry: Torsion dystonia 6 Primary dystonia, DYT6 type National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  2. THAP1 gene 
    ... group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.Most of the THAP1 gene mutations that cause dystonia 6 change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  3. X-linked dystonia-parkinsonism 
    ... for Rare Disorders (NORD) ClinicalTrials.gov ... A. Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord. 2002 Nov;17(6):1271-7. doi: 10.1002/mds.10271. Citation ...
    https://medlineplus.gov/.../condition/x-linked-dystonia-parkinsonism - Genetics
  4. Early-onset isolated dystonia 
    ... National Organization for Rare Disorders (NORD) DYSTONIA 1, TORSION, ... doi: 10.1002/mds.25475. Epub 2013 May 6. Citation on PubMed Artusi CA, Dwivedi A, Romagnolo ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  5. Benign essential blepharospasm 
    ... patients. J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):767-72. doi: 10.1136/jnnp.51.6.767. Citation on PubMed or Free article on ...
    https://medlineplus.gov/.../condition/benign-essential-blepharospasm - Genetics
  6. TOR1A gene 
    ... AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat ... Mechanism for Dystonia. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016. ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  7. Dystonia Medical Research Foundation (Dystonia Medical Research Foundation)  
    ... Dystonia DYT1 dystonia, also known as early-onset torsion dystonia, is a severe form of hereditary, generalized dystonia. ...
    https://dystonia-foundation.org - Other Resources
  8. TUBB4A gene 
    ... hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain ... hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. Epub ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics