At the time when I was born, did they have enough information and research on Segawa. I think not. Do they have enough information and research. I think not. The bottom line is that there not enough allocation of money for research.
- Autosomal Dominant Segawa Syndrome
- Autosomal Dominant Dopa-Responsive Dystonia (DRD)
- GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
- Guanosine Triphosphate Cyclohydrolase I Deficiency
- Progressive Dystonia with Marked Diurnal Fluctuation
- Segawa Disease
Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia. Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). Dystonia in Segawa syndrome usually affects the legs, but some children may first develop dystonia in the arms. In some cases, the symptoms of Segawa syndrome may become noticeably worse or more pronounced in the afternoon and evening than in the morning (marked diurnal fluctuation). The symptoms of Segawa syndrome usually become apparent around six years of age. Intelligence is not affected. Children with Segawa syndrome usually show a dramatic and sustained improvement when treated with levodopa. Levodopa is an amino acid that is converted to dopamine, a brain chemical that serves as a neurotransmitter. Dopamine is deficient in children with Segawa syndrome. The disorder is caused by mutations of the GCH-1 gene. The GCH-1 gene mutation is inherited as an autosomal dominant trait.
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