An important variant form of dopa-responsive dystonia (DRD).
DRD typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, with spasticity. DRD, by definition, can be successfully treated with dopa.
In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasingly worse disability in the afternoon and evening and after exercise.
- Segment, genomic
A region of the genome; it encompasses objects described as loci or probes. Genomic segments can range in size from points to regions as large as an entire chromosome. There are many types of genomic regions. On a technical level, they include genes, gene elements, amplimers (PCR markers), breakpoints in chromosomes, clones, cytogenetic markers, fragile […]
Uncontrolled electrical activity in the brain, which may produce a physical convulsion, minor physical signs, thought disturbances, or a combination of symptoms. The type of symptoms and seizures depend on where the abnormal electrical activity takes place in the brain, what its cause is, and such factors as the patient’s age and general state of […]
- Seizure disorders
Lennox-Gastaut syndrome, Ramsey Hunt syndrome, seizure.
- Seizure, absence
The person suddenly seems to be ‘absent.’ There is a brief loss of awareness, which can be accompanied by blinking or mouth twitching. Absence seizures have a very characteristic appearance on an EEG. Also known as petit mal seizure.
- Seizure, atonic
A seizure in which the person suddenly loses muscle tone and cannot sit or stand upright. Also known as drop attack and drop seizure.