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Results 21 - 30 of 32 for Dystonia 30
  1. 3-methylglutaconyl-CoA hydratase deficiency 
    ... skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and ... 1007/s10545-010-9210-7. Epub 2010 Sep 30. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  2. GM1 gangliosidosis 
    ... this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life ... j.ymgme.2019.12.012. Epub 2019 Dec 30. Citation on PubMed Regier DS, Proia RL, D' ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  3. Aicardi-Goutières syndrome 
    ... muscle stiffness (spasticity), involuntary tensing of various muscles (dystonia), and weak muscle tone (hypotonia). They can have ... S1474-4422(13)70258-8. Epub 2013 Oct 30. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  4. Niemann-Pick disease 
    ... vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals ... j.ymgme.2012.06.015. Epub 2012 Jun 30. Citation on PubMed Irun P, Mallen M, Dominguez ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  5. Leigh syndrome 
    ... develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss ... Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman ...
    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 ... 10.1055/s-0035-1568987. Epub 2015 Nov 30. Citation on PubMed Steenweg ME, Ghezzi D, Haack ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  7. Alternating hemiplegia of childhood 
    ... can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of ... S1474-4422(12)70182-5. Epub 2012 Jul 30. Citation on PubMed Sweney MT, Silver K, Gerard- ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  8. Pyridoxal phosphate-responsive seizures 
    ... as developmental delays, learning disorders, and uncontrolled movements (dystonia).Other conditions present with signs and symptoms that ... epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006- ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  9. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty ... doi: 10.1093/hmg/ddr238. Epub 2011 May 30. Citation on PubMed Montagna G, Teijido O, Eymard- ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  10. Mitochondrial complex I deficiency 
    ... disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). Affected individuals may have low muscle tone (hypotonia), ... of mitochondrial disease in children, accounting for approximately 30 percent of cases. Mutations in many genes can ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
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