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abnormal involuntary movement
- 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 ...
- ... familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within ... in people with primary familial brain calcification include involuntary tensing of ... movements of the limbs (choreoathetosis), and an unsteady walking ...
- ... of the eye muscles, which can lead to involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble moving the ... gene disrupts the normal structure of NOP56 mRNA. Abnormal NOP56 mRNA molecules form clumps called RNA foci ...
- ... brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains ...
- ... not look in the same direction (strabismus), rapid involuntary eye movements (nystagmus), or difficulty moving the eyes intentionally (supranuclear ... of this enzyme's function may result in abnormal myelin that is prone to deterioration (demyelination), leading ...
- ... is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins ... The most common are myoclonic seizures, which involve involuntary muscle ... then rigid movements of the arms. Epilepsy can worsen, causing prolonged ...
- ... is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs ... partial or complete loss of consciousness (absence seizures), involuntary ... Problems with movement are common, and about half of affected infants ...
- ... ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus. Mild to severe intellectual disability has ... of certain neurotransmitters in the brain. The resulting abnormal signaling may lead to the severe headaches and ...
- ... signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with ... subunit is located within the cell membrane; the abnormal subunit is found in the cell membrane as ...
- ... pneumonia. Seizures occur in some affected children.Rapid, involuntary eye movements (nystagmus), eyes that do not look in the ... neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region ...