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Results 41 - 50 of 69 for Dystonia 9
  1. Neuroferritinopathy 
    ... coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent ... neuroferritinopathy. Mov Disord. 2005 Jan;20(1):95-9. doi: 10.1002/mds.20284. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/neuroferritinopathy - Genetics
  2. Aicardi-Goutières syndrome 
    ... muscle stiffness (spasticity), involuntary tensing of various muscles (dystonia), and weak muscle tone (hypotonia). They can have ... AICARDI-GOUTIERES SYNDROME 8; AGS8 AICARDI-GOUTIERES SYNDROME 9; AGS9 PubMed Crow YJ, Chase DS, Lowenstein Schmidt ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  3. CUL3-related neurodevelopmental disorder 
    ... In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). ... 491-498. doi: 10.1038/s10038-020-00868-9. Epub 2020 Oct 31. Citation on PubMed Nakashima ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  4. Combined malonic and methylmalonic aciduria 
    ... signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability ... classic phenotype. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  5. Leigh syndrome 
    ... develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss ... Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  6. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... delay), weak muscle tone (hypotonia), involuntary muscle tensing (dystonia), muscle spasticity, and seizures. Some have extremely high ... Novel EARS2 Mutation. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  7. ADCY5 gene 
    ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. ... myokymia. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar ...
    https://medlineplus.gov/genetics/gene/adcy5 - Genetics
  8. Alternating hemiplegia of childhood 
    ... can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of ... hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  9. Aceruloplasminemia 
    ... movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive ... Sci. 2003 Mar 15;207(1-2):108-9. doi: 10.1016/s0022-510x(02)00434-3. ...
    https://medlineplus.gov/genetics/condition/aceruloplasminemia - Genetics
  10. Chorea-acanthocytosis 
    ... chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, ... 151-8. doi: 10.1007/s10048-005-0220-9. Epub 2005 Sep 28. Citation on PubMed Karkheiran ...
    https://medlineplus.gov/genetics/condition/chorea-acanthocytosis - Genetics
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