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Results 71 - 80 of 89 for abnormal involuntary movement
  1. Hypermanganesemia with dystonia 
    ... to walk unassisted. Some affected individuals have an abnormal curvature of the spine (scoliosis). People with hypermanganesemia ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. Biotin-thiamine-responsive basal ganglia disease 
    ... relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown.It is unclear how ... partially compensating for the impaired efficiency of the abnormal protein. Others propose that biotin transporter proteins may ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  3. Deafness-dystonia-optic neuronopathy syndrome 
    ... that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  4. CHMP2B-related frontotemporal dementia 
    ... CHMP2B gene lead to the production of an abnormal version of charged multivesicular body protein 2B. Most ... frontotemporal dementia result in the production of an abnormal protein that is missing a critical segment at ...
    https://medlineplus.gov/.../chmp2b-related-frontotemporal-dementia - Genetics
  5. MEGDEL syndrome 
    ... the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  6. Ataxia-pancytopenia syndrome 
    ... low numbers of white blood cells (neutropenia), and abnormal bleeding due to low numbers of platelets (thrombocytopenia). ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  7. Fragile X-associated tremor/ataxia syndrome 
    ... reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. ... Simon TJ, Tassone F, Ferrer E, Rivera SM. Abnormal trajectories in cerebellum and brainstem volumes in carriers ...
    https://medlineplus.gov/...agile-x-associated-tremor-ataxia-syndrome - Genetics
  8. Guillain-Barré syndrome 
    ... can lead to fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia).There are several types of ... the position of their limbs and can have abnormal or absent reflexes (areflexia).Miller Fisher syndrome, another ...
    https://medlineplus.gov/genetics/condition/guillain-barre-syndrome - Genetics
  9. Triple A syndrome 
    ... known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on ... temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size ( ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  10. Coloboma 
    ... this condition are likely undiagnosed. Coloboma arises from abnormal development of the eye. During the second month ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
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