Results 51 -
60
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106
for
abnormal involuntary movement
- ... 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 ...
- ... light (photophobia), a loss of sharpness (reduced acuity), involuntary movements of the eyes (nystagmus). Many affected individuals also ... front part of the eye (astigmatism), nearsightedness (myopia), abnormal color vision, and night blindness. The variant associated ...
- ... 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 ...
- ... movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, ...
- ... 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 ...
- ... unusually small head size (microcephaly), impaired vision, and involuntary muscle movements. The prevalence of GRIN2B-related neurodevelopmental disorder is ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin ...
