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Results 21 - 30 of 72 for Limb dystonia
  1. MEGDEL syndrome 
    ... with MEGDEL syndrome later develop involuntary muscle tensing (dystonia) and muscle stiffness (spasticity), which worsen over time. ... mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44( ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. Aromatic l-amino acid decarboxylase deficiency 
    ... muscle contractions that may cause unusual body positions (dystonia) and writhing movements of the limbs (athetosis). Dystonia tends to become worse when the individual is ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  3. McLeod neuroacanthocytosis syndrome 
    ... of the arms and legs, and muscle tensing (dystonia) in the face and throat, which can cause ... vocal tics (such as grunting and clicking noises). Dystonia of the tongue can lead to swallowing difficulties. ...
    https://medlineplus.gov/.../mcleod-neuroacanthocytosis-syndrome - Genetics
  4. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... related mtDNA depletion syndrome can include uncontrolled movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. ... associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3): ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  5. Biotin-thiamine-responsive basal ganglia disease 
    ... and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both ... individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  6. ADCY5-related dyskinesia 
    ... as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. ...
    https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia - Genetics
  7. Ataxia with oculomotor apraxia 
    ... oculomotor apraxia, individuals with this type typically develop dystonia, which is involuntary, sustained muscle tensing that causes unusual positioning of body parts. Dystonia can be the first feature of the condition, ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  8. Fatty acid hydroxylase-associated neurodegeneration 
    ... exaggerated reflexes. They typically have involuntary muscle cramping (dystonia), problems with coordination and balance (ataxia), or both. ... are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5): ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  9. DLG4-related synaptopathy 
    ... including impaired muscle coordination (ataxia), involuntary muscle coordination (dystonia), or rhythmic shaking (tremor) are common in people ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  10. CUL3-related neurodevelopmental disorder 
    ... In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
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