Ad
related to: torsion dystonia- Need a Second Opinion?
Put Our Expertise to Work for You.
Get a Virtual Second Opinion Today.
- Virtual Second Opinions
Get Peace of Mind from Home.
Review Your Diagnosis & Treatment.
- Dystonia
Access a Free Treatment Guide.
Learn More About Dystonia Treatment
- Movement Disorders
Download a Free Treatment Guide
Learn More About Movement Disorders
- Need a Second Opinion?
Search results
Results from the WOW.Com Content Network
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12.
Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). [5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.
Early-onset torsion dystonia: DYT2 224500: HPCA 1p35-p34.2 Autosomal recessive primary isolated dystonia DYT3 314250: TAF1: Xq13 X-linked dystonia parkinsonism: DYT4 128101: TUBB4 [7] 19p13.12-13 Autosomal dominant whispering dysphonia DYT5a 128230: GCH1: 14q22.1-q22.2 Autosomal dominant dopamine-responsive dystonia: DYT5b 191290: TH: 11p15.5
Dystonia is a disorder of involuntary muscle contractions that may cause repetitive and/or abnormal movement or postures. Dystonia is a disorder that causes repetitive involuntary muscle movements ...
Spasmodic torticollis is one of the most common forms of dystonia seen in neurology clinics, occurring in approximately 0.390% of the United States population in 2007 (390 per 100,000). [3] Worldwide, it has been reported that the incidence rate of spasmodic torticollis is at least 1.2 per 100,000 person years, [ 27 ] and a prevalence rate of ...
Torsion dystonia 7; Torticollis; Torticollis keloids cryptorchidism renal dysplasia; Torulopsis; Tosti–Misciali–Barbareschi syndrome; Total hypotrichosis, Mari type;
333.6 Idiopathic torsion dystonia; 333.7 Symptomatic torsion dystonia; 333.8 Fragments of torsion dystonia; 333.9 Other and unspecified; 334 Spinocerebellar disease. 334.0 Friedreich's ataxia; 334.1 Hereditary spastic paraplegia; 334.2 Primary cerebellar degeneration; 334.3 Other cerebellar ataxia; 334.4* Cerebellar ataxia in diseases ...
After mapping torsion dystonia by linkage disequilibrium (LD) analysis he found it was genetically dominant and was a founder mutation. Other work has focused on the genetic basis of Parkinson's disease, hemochromatosis, multiple sclerosis, diabetes, autism, epilepsy and hypertension.
Ad
related to: torsion dystonia