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Results 41 - 50 of 89 for abnormal involuntary movement
  1. Pelizaeus-Merzbacher disease 
    ... Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of ... and DM20. Other mutations lead to production of abnormal proteins that are often misfolded. Excess or abnormal ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  2. 47,XYY syndrome 
    ... of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Individuals with 47, ... inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and abnormal side-to-side curvature of the spine (scoliosis). ...
    https://medlineplus.gov/genetics/condition/47xyy-syndrome - Genetics
  3. Autosomal dominant optic atrophy and cataract 
    ... in autosomal dominant optic atrophy and cataract include involuntary movements of the eyes (nystagmus), or problems with color ... apoptosis).Mutations in the OPA3 gene lead to abnormal mitochondrial function. The mitochondria become misshapen and disorganized ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  4. Autosomal recessive congenital stationary night blindness 
    ... including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do ... KR, Derlacki DJ, Rajagopalan AS. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations ...
    https://medlineplus.gov/...ive-congenital-stationary-night-blindness - Genetics
  5. Spinocerebellar ataxia type 1 
    ... movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  6. Spinocerebellar ataxia type 2 
    ... muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with SCA2 develop a group ... the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - Genetics
  7. GRIN2B-related neurodevelopmental disorder 
    ... unusually small head size (microcephaly), impaired vision, and involuntary muscle movements. The prevalence of GRIN2B-related neurodevelopmental disorder is ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  8. GLUT1 deficiency syndrome 
    ... the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common ... other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  9. CASK-related intellectual disability 
    ... disorder.XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual ... of the oculomotor neural network and resulting in abnormal eye movements. CASK This condition is inherited in ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  10. Transthyretin amyloidosis 
    ... a progressive condition characterized by the buildup of abnormal protein deposits called amyloids (amyloidosis) in the body' ... heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic ...
    https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis - Genetics
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