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Results 21 - 30 of 37 for Dystonia 16
  1. GRN-related frontotemporal lobar degeneration 
    ... disturbance), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia), and an inability to carry out purposeful movements ( ... familial frontotemporal dementia cases. Alzheimers Dement. 2020 Jan;16(1):118-130. doi: 10.1002/alz.12011. ...
    https://medlineplus.gov/...related-frontotemporal-lobar-degeneration - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... disability, poor muscle tone (hypotonia), involuntary muscle contractions (dystonia), progressive muscle stiffness (spasticity), abnormal eye movements (nystagmus), ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. CUL3-related neurodevelopmental disorder 
    ... In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). ... a syndromic neurodevelopmental disorder. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023. ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  4. Infantile neuroaxonal dystrophy 
    ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9): ... infantile neuroaxonal dystrophy. Eur J Neurol. 2009 Feb;16(2):240-5. doi: 10.1111/j.1468- ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  5. Pontocerebellar hypoplasia 
    ... abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision ... and genetic studies. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Citation ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  6. Pyridoxine-dependent epilepsy 
    ... include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure ... J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. Citation on PubMed Plecko ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  7. Aicardi-Goutières syndrome 
    ... muscle stiffness (spasticity), involuntary tensing of various muscles (dystonia), and weak muscle tone (hypotonia). They can have ... 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  8. Niemann-Pick disease 
    ... vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals ... disease registry. Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8- ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  9. SERAC1 gene 
    ... mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  10. Spinocerebellar ataxia type 3 
    ... of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and ... to help patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis. ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-3 - Genetics
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