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Results 1 - 10 of 11 for Torsion dystonia
  1. ... Dystonia musculorum deformans 1 DYT1 Early-onset generalized torsion dystonia Early-onset primary dystonia Oppenheim dystonia Oppenheim's dystonia Primary torsion dystonia Genetic Testing Registry: Early-onset generalized limb-onset ...
  2. ... known as reduced penetrance. DYT6 DYT6 dystonia Idiopathic torsion dystonia of mixed type Primary dystonia, DYT6 type THAP1 dystonia Torsion dystonia 6 Genetic Testing Registry: Torsion dystonia 6 Primary ...
  3. Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a ...
  4. ... musculorum deformans Dystonia-parkinsonism, X-linked DYT3 Lubag Torsion dystonia-parkinsonism, Filipino type X-linked dystonia-parkinsonism syndrome X-linked torsion dystonia-parkinsonism syndrome XDP Genetic Testing Registry: X-linked ...
  5. ... AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat ...
  6. 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. ...
  7. ... hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta-4A chain isoform 1 tubulin beta-4A chain isoform 2 tubulin beta-4A chain isoform 3 tubulin ... the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013 Apr;73(4):546-53. ...
  8. Symptoms and Classifications (Dystonia Medical Research Foundation)  
    Dystonia/Symptoms ... Dystonia ... Dystonia Medical Research Foundation ... Symptoms Classifications of Dystonia. Dystonia can occur in people of all ages. Certain types ...
  9. ... group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy ...
  10. ... 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) ...
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