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.
Synonym(s): torsion disease of childhood, torsion dystonia, Ziehen-Oppenheim disease

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
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References in periodicals archive ?
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.
Targets for treatment of dystonia caused by several etiologies. Meta analysis
A genetic study of idiopathic torsion dystonia in the United Kingdom.
Movement disorders in children
Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.
Tratamiento de distonia con estimulacion cerebral profunda
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein," Nature Genetics, vol.
Association analysis of NALCN polymorphisms rs1338041 and rs61973742 in a Chinese population with isolated cervical dystonia
Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia.
Disease distribution manner of people's body without mutation in DYT1 gene of dystonia disease in Iran
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.
Genea places 25 new disease-specific pluripotent stem cell lines on NIH registry
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.
Genea places 25 new disease-specific pluripotent stem cell lines on NIH registry
Affecting movement control, Torsion Dystonia generally shows up between the ages of six and 16 and affects the muscular development of limbs.
Moment's guide to Jewish genetic diseases
Tricia suffers from generalised torsion dystonia, an inflammation affecting the parts of the brain that control movement.
Health Zone: Jill Palmer's medical casebook : I'll be awake when they open my brain; FEAR AND HOPE OF GIRL WITH RARE DISEASE
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.
Gene defect for muscle disorder identified
Torsion dystonia, previously called dystonia musculorum deformans, is a rare, generalized dystonia that may he inherited, usually begins in childhood, and becomes progressively worse.
The dystonias
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.
Alnylam Reports Pre-clinical Progress with RNAi Therapeutics in Neurological Disease

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