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Results 31 - 37 of 37 for Dystonia 16
  1. Leigh syndrome 
    ... develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss ... Spectrum Overview. 2015 Oct 1 [updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  2. 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 ... 1007/s11011-016-9793-2. Epub 2016 Jan 16. Citation on PubMed Kevelam SH, Klouwer FC, Fock ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  3. ADCY5 gene 
    ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. ... doi: 10.2337/db13-1607. Epub 2014 Apr 16. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/adcy5 - Genetics
  4. Pelizaeus-Merzbacher-like disease type 1 
    ... fingers. Some develop involuntary tensing of the muscles (dystonia) and jerking (choreiform) movements. Many people with Pelizaeus- ... heterogeneity in 119 patients. PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  5. Pyridoxal phosphate-responsive seizures 
    ... as developmental delays, learning disorders, and uncontrolled movements (dystonia).Other conditions present with signs and symptoms that ... doi: 10.1093/hmg/ddi120. Epub 2005 Mar 16. Citation on PubMed Plecko B, Mills P. PNPO ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  6. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty ... cysts. Hum Mol Genet. 2011 Aug 15;20(16):3266-77. doi: 10.1093/hmg/ddr238. Epub ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  7. SUCLA2 gene 
    ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ... 1007/s10545-015-9894-9. Epub 2015 Oct 16. Citation on PubMed Chinnery PF. Mutations in SUCLA2: ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
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