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

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 ?
EMG studies on both patients revealed nonreciprocal diffuse activation of the trunk and extremity muscles with grouping contractions (tremor) with the same pattern as the idiopathic torsion dystonia. (10) A literature study on H-S disease showed that patients with dystonia showed slighter involvement of the substantia nigra compared with the lesions in the globus pallidus.
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
According to Schmidt et al., 2010 (Schmidt and Klein 2010) Designation Dystonia type DYT1 Early-onset generalized torsion dystonia (TD) DYT2 Autosomal recessive TD DYT3 X-Iinkeed dystonia parkisonism; 'lubag' DYT4 'Non-DYTI' TD: whispering dysphonia DYT5a Dopa-responsive dystonia.
Walsh et al., "Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia," Brain, vol.
A variant of adult-onset torsion dystonia? J Neurol Neurosurg Psychiatry 1976;39:1204-9.
[D.sub.Y][T.sub.1]AD Primary torsion dystonia [D.sub.Y][T.sub.2]AD Primary torsion dystonia [D.sub.Y][T.sub.3] Filipino dystonia parkinsonism [D.sub.Y][T.sub.4] Primary torsion dystonia with laryngeal [D.sub.Y][T.sub.5] involvement [D.sub.Y][T.sub.6] Dopa responsive dystonia [D.sub.Y][T.sub.7] Mixed phenotype primary torsion dystonia [D.sub.Y][T.sub.8] Paroxysmal non-kinesigenic choreoathetosis.
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Page et al., "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein," Nature Genetics, vol.
Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia. Mov Disord., 1: 163-178.
These cell lines include one disease free pluripotent cell line and 24 others widi 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.
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.
Affecting movement control, Torsion Dystonia generally shows up between the ages of six and 16 and affects the muscular development of limbs.