Dystonia, Segawa: 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.
- Dystonia, torsion
Dystonia, torsion: A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset […]
- Dystrophy, autoimmune polyendocrinopathy
Dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal: A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism — underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) autoimmune […]
- Dystrophy, cone
Dystrophy, cone: A disease of the cones, the specialized light-sensitive cells that act as photoreceptors in the retina of the eye, providing sharp central vision and color vision. The cone dystrophies are a form of genetic macular degeneration characterized by progressive deterioration of the cones that leads to the distinctive triad of loss of color […]
- Dystrophy, muscular
Dystrophy, muscular: One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The major forms […]
- Dystrophy, myotonic
Dystrophy, myotonic: An inherited disease in which the muscles contract but have decreasing power to relax — this phenomenon is termed myotonia (irritability and prolonged contraction of muscles). The disease also produces leads to a mask-like expressionless face, premature balding, cataracts, and heart arrhythmias (abnormalities in heart rhythm). The onset of such problems is usually […]