torsion dystonia


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dys·to·ni·a mus·cu·lo·rum de·for·mans

a genetic, environmental, or idiopathic disorder, usually beginning in childhood or adolescence, marked by muscular contractions that distort the spine, limbs, hips, and sometimes the cranial innervated muscles. The abnormal movements are increased by excitement and, at least initially, abolished by sleep. The musculature is hypertonic when in action, hypotonic when at rest. Hereditary forms usually begin with involuntary posturing of the foot or hand (autosomal recessive form [MIM*224500]) or of the neck or trunk (autosomal dominant form [MIM*128100]); both forms may progress to produce contortions of the entire body.

torsion dystonia

torsion dystonia

Neurology An AD, possibly also AR condition most common in Jews, onset age 5 to 16 Clinical Gait defects, involuntary contractions and distortion of spine, hands, feet, hips, and eventually neck; lesions typically start in one body region, usually in an arm or leg, and spread to the rest of the body in ±5 yrs; most Pts are wheelchair bound by adulthood; muscles are hypertonic, under voluntary control, hypotonic at rest; IQ unaffected

Flatau,

Edward, Polish neurologist, 1869-1932.
Flatau law - a law concerning the eccentric position of the long spinal tracts.
Flatau syndrome - recessive trait resulting in bizarre movements brought on by physical activity. Synonym(s): torsion dystonia
Flatau-Schilder disease - Synonym(s): Schilder disease
References in periodicals archive ?
Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia.
Early onset torsion dystonia (Oppenheim's dystonia), Orphanet Journal of Rare Diseases'.
26, 2012 /PRNewswire/ -- Scientists from Beth Israel Medical Center and the Icahn School of Medicine at Mount Sinai have announced the discovery of a novel gene for primary torsion dystonia, a debilitating neurological disorder estimated to affect no fewer than 300,000 people in the US and Canada.
Affecting movement control, Torsion Dystonia generally shows up between the ages of six and 16 and affects the muscular development of limbs.
Tricia suffers from generalised torsion dystonia, an inflammation affecting the parts of the brain that control movement.
Since 1982, a small cadre of scientists has gathered family histories of people with early-onset torsion dystonia, a crippling disorder that causes the muscles to contract, twist, or sometimes jerk involuntarily.
These cell lines include one disease free pluripotent cell line and 24 others with individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
3 /PRNewswire/ -- A new research study has identified mutations in the THAP1 gene as a cause of primary torsion dystonia (DYT6 type) in Amish-Mennonite families and cited a second mutation in a non-Mennonite family showing that THAP1 causes dystonia in other ethnic groups.
Early onset torsion dystonia affects approximately 1 in 30,000 - 300,000 persons and, in certain ethnic populations, is prevalent at a frequency of 1 in 10,000.
He has contributed significantly to the understanding of the genetic basis of breast cancer, autism, coronary heart disease, Alzheimer's Disease, torsion dystonia and hemochromatosis.
Validity and reliability of a rating scale for the primary torsion dystonias.