*  Dystonia Musculorum Deformans, Sprague-Dawley Rat with the Dystonic (dt) Mutation | SpringerLink
Although dystonia can be a Symptom of a variety of... ... The dystonias are a heterogeneous group of motor disorders ... Baker H.J. (1991) Dystonia Musculorum Deformans, Sprague-Dawley Rat with the Dystonic (dt) Mutation. In: Jones T.C., Mohr U., ... primary clinicopathologic hallmark of the family of human inherited torsion dystonias known as dystonia musculorum deformans. ... The dystonias are a heterogeneous group of motor disorders characterized by sustained, involuntary twisting movements (Fahn and ...
*  Cholinergic Dysfunction Alters Synaptic Integration between Thalamostriatal and Corticostriatal Inputs in DYT1 Dystonia |...
1974) Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. Brain 97:793-810. ... DYT1 dystonia is a common inherited form of primary dystonia associated with the DYT1 mutation in the gene encoding the protein ... This study was supported by the Bachmann-Strauss Dystonia-Parkinson Foundation, Dystonia Medical Research Foundation, Istituto ... 1991) Motor inhibition from the brainstem is normal in torsion dystonia during REM sleep. J Neurol Neurosurg Psychiatry 54:140- ...
*  Diagnoselisten - Rarelink.no
Dystonia Musculorum Deformans (Engelsk) * Dystonia Musculorum Deformans 2 (Norsk) * Dystonia-Parkinsonism, X-linked (Engelsk) ... Deafness-dystonia-optic neuronopathy syndrome (Engelsk) * Deficiency of the mitochondrial respiratory chain complex I (Engelsk) ...
*  2018 ICD-10-CM Index Terms Starting With 'T'
Dystonia deformans progressiva. *Dystonia musculorum deformans. *Familial torsion dystonia. *Idiopathic familial dystonia ... Genetic torsion dystonia. 2016 2017 2018 Billable/Specific Code Applicable To* ...
*  Dystonia-Parkinsonism, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Dystonia Musculorum Deformans 25 69 X-Linked Torsion Dystonia-Parkinsonism Syndrome 25 ... UMLS symptoms related to Dystonia-Parkinsonism, X-Linked:. dystonia, myoclonus, torticollis, dystonia, paroxysmal, dystonia, ... UniProtKB/Swiss-Prot : 71 Dystonia 3, torsion, X-linked: A X-linked dystonia-parkinsonism disorder. Dystonia is defined by the ... also known as x-linked dystonia-parkinsonism, is related to x-linked dystonia-parkinsonism/lubag and dystonia-12, and has ...
*  Idiopathic dystonia clinical, profile of 76 brazilian patients
Idiopathic torsion dystonia (dystonia musculorum deformans): a review of forty-two patients. Brain 1974, 97:793-810. [ Links ] ... Hornykiewcz O, Kish SJ, Becker LE, Farley J, Shannak K. Brain neurotransmitters in dystonia musculorum deformans. N Engl J Med ... Yanagisawa N, Goto A, Narabayashi H. Familial dystonia musculorum deformans and tremor. J Neurol Sei 1972, 16:125-136. [ Links ... Zeman H, Kaelbling R, Pasamanick B. Idiopathic dystonia musculorum deformans: II. The formes frustes. Neurology 1960, 10:1068- ...
*  New Health Advisor - New Health Advisor for Daily Health Care.
Dystonia musculorum deformans. *Neuroleptic-malignant syndrome. *Catatonia. *Creutzfeldt-Jakob disease. *Steele-Richardson- ...
*  80DDB Tax Rebate
Dystonia Musculorum Deformans. - Motor Neuron Disease. - Ataxia. - Chorea. - Hemiballismus. - Aphasia. - Parkinsons Disease ...
*  Dystocia definition
Dystonia musculorum deformans. dystonia musculorum deformans dystonia mus·cu·lo·rum de·for·mans (mŭs'kyə-lôr'əm dē-fôr'mənz) n ... Dystonia. [dis-toh-nee-uh] /dɪsˈtoʊ ni ə/ noun, Pathology. 1. abnormal tone of any tissue. /dɪsˈtəʊnɪə/ noun 1. a neurological ... dystonic reaction n. A state of abnormal tension or muscle tone, similar to dystonia, produced as a side effect of certain ... so that the head and limbs are held in unnatural positions dystonia dys·to·ni·a (dĭs-tō'nē-ə) n. Abnormal tonicity […] ...
*  February 2015
Dystonia Musculorum Deformans;. Motor Neuron Disease;. Ataxia;. Chorea;. Hemiballismus;. Aphasia;. Parkinson's Disease. ... Osteitis Deformans, Osteochondritis, Osteochondrodysplasias, Osteolysis, Essential Paget Disease, Extramammary Paget's Disease ...
*  Tax Benefits for Differently Able persons in India
b) Dystonia Musculorum Deformans ;. (c) Motor Neuron Disease ;. (d) Ataxia ;. (e) Chorea ; ...
*  Sjúkdómalisti - Rarelink.is
Dystonia Musculorum Deformans (Enska) * Dystonia-Parkinsonism, X-linked (Enska) * Dystrophy myotonica, Steinert disease, ...
*  Diagnoses We Serve | Any Baby Can
Dystonia Musculorum Deformans - Torsion Dystonia. E. Ehlers-Danlos Syndromes. Encephalocele. Encephalopathy, Congenital. ... Symptomatic Torsion Dystonia. Syringomyelia. T. TAR Syndrome. Thanatophoric Dysplasia. Tuberous Sclerosis. Tyrosinemia Type I ( ...
*  Dr. Kendra S Hendon, MD - Nephrology - Knoxville, TN
Dystonia Musculorum Deformans, Type 2. *Epilepsy, Benign, Familial, Infantile Epilepsy. *Goiter. *Hereditary Neuropathy With ...
*  DMOZ - Health: Conditions and Diseases: Neurological Disorders: Movement Disorders: Dystonia
A description of dystonia musculorum deformans. NORD: Dystonia Offers synonyms, a general discussion and further resources. ... Abstracts: Genetics of Dystonia Idiopathic torsion dystonia, by Laurie Ozelius, Molecular Neurogenetics Unit, Massachusetts ... Dystonia Medical Research Foundation Canada Mission of the DMRFC is to advance research for more treatments and ultimately a ... ADDER - Dystonia Research Information about the organization which promotes medical and patient education about movement ...
*  Shirley Sargent - Wikipedia
A rare crippling disease, dystonia musculorum deformans, kept her to a wheelchair from age 14, but that didn't stop her. After ...
*  Torsion dystonia - Wikipedia
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions ... A combination of blepharospasm and oromandibular dystonia. Early-onset torsion dystonia: The most severe type of dystonia, it ... Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. It can make eating and swallowing very complicated due ... Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. It can create problems by ...
*  dyspeptic in a Sentence | Vocabulary Builder
... focal dystonias, dystonia musculorum deformans and dyspeptic dystonia with hiatal hernia. ...
... torsion dystonia (torsion spasm; dystonia musculorum deformans), spasmodic torticollis and other dyskinesis, familial tremor, ... In some embodiments, the subject has Alzheimer's disease, Senile dementia, Huntington's disease, torsion dystonia, spasmodic ... torsion dystonia, spasmodic torticollis, Gilles de la Tourette syndrome, and/or Parkinson's disease.. Description:. [0001] This ... torsion dystonia, Tourettes Fanconi's anemia, trauma or a combination thereof. In some embodiments, the compound of any of ...
... torsion dystonia (torsion spasm; dystonia musculorum deformans), spasmodic torticollis and other dyskinesis, familial tremor, ... dystonia, Spasmodic torticollis and dyskinesis, Familial tremor, Gilles de la Tourette syndrome, Diffuse Lewy body disease, ... Torsion dystonia, Spasmodic torticollis and dyskinesis, Familial tremor, Gilles de la Tourette syndrome, Diffuse Lewy body ...
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A 31-year-old man had generalized torsion dystonia (dystonia musculorum deformans) of 20 years' duration. ...
*  Musicians with Dystonia: practice makes imperfect
The long-recognized generalized familial form of the condition, dystonia musculorum deformans, affects most muscles usually ... What causes dystonia?. Ironically, in the past the cause of musician's dystonia was thought to be "overuse," that is, overuse ... What is Dystonia?. Dystonia of musicians may be a dead-end branch of the evolutionary tree, a maladaptation that happens when ... Who has Dystonia?. Well-known musician's with dystonia include pianists Leon Fleischer and Gary Graffman and violinist Peter ...
*  X-linked dystonia parkinsonism - Wikipedia
... "dystonia musculorum deformans". This sparked an epidemiological survey which was published in 1976. Lee et al. described a ... X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a rare x-linked ... Botulinum toxin injections have been used to relieve focal dystonia. Deep brain stimulation has shown promise in the few cases ... It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or ...
*  Dystonic Disorders; Familial Dystonia; Focal Dystonia; Pseudodystonia; Writer's Cramp
Focal Dystonia; Pseudodystonia; Writer's Cramp. On-line free medical diagnosis assistant. Ranked list of possible diseases from ... These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g ... Dystonic disorders (Familial Dystonia; Focal Dystonia; Pseudodystonia; Writer's Cramp). Acquired and inherited conditions that ... feature DYSTONIA as a primary manifestation of disease. ...

(1/87) Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia?

Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's camp preceded the syndrome in two patients. Eight other patients developed toritocollis, dystonic posturing of the arms, or involvement of respiratory muscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that this syndrome is due to an abnormality of extrapyramidal function, and that it is another example of adult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed.  (+info)

(2/87) Primary torsion dystonia: the search for genes is not over.

A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative efforts will be required to identify these, and additional genes, causing PTD.  (+info)

(3/87) Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent cloning of the gene responsible for this disease, TOR1A (DYT1), identified the encoded protein, torsinA, as a member of the AAA+ superfamily of chaperone proteins and revealed highest levels of expression in dopaminergic neurons in human brain. Most cases of this disease are caused by a deletion of one glutamic acid residue in the C-terminal region of the protein. Antibodies generated against torsinA revealed expression of a predominant immunoreactive protein species similar to the predicted size of 37.8 kDa in neural, glial and fibroblastic lines by western blot analysis. This protein is N-glycosylated with high mannose content and not, apparently, phosphoryl-ated. Overexpression of torsinA in mouse neural CAD cells followed by immunocytochemistry, revealed a dramatically different pattern of distribution for wild-type and mutant forms of the protein. The wild-type protein was found throughout the cytoplasm and neurites with a high degree of co-localization with the endoplasmic reticulum (ER) marker, protein disulfide isomerase. In contrast, the mutant protein accumulated in multiple, large inclusions in the cytoplasm around the nucleus. These inclusions were composed of membrane whorls, apparently derived from the ER. If disrupted processing of the mutant protein leads to its accumulation in multilayer membranous structures in vivo, these may interfere with membrane trafficking in neurons.  (+info)

(4/87) Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.

Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that has recently been linked to a 3-base pair deletion in the DYT1 gene. The DYT1 gene encodes a 332-amino acid protein, torsin A, that bears low but significant homology to the Hsp100/Clp family of ATPase chaperones. The deletion in DYT1 associated with torsion dystonia results in the loss of one of a pair of glutamic acid residues residing near the C terminus of torsin A (DeltaE-torsin A). At present, little is known about the expression, subcellular distribution, and/or function of either the torsin A or DeltaE-torsin A protein. When transfected into mammalian cells, both torsin A and DeltaE-torsin A were found to behave as lumenally oriented glycoproteins. Immunofluorescence studies revealed that torsin A localized to a diffuse network of intracellular membranes displaying significant co-immunoreactivity for the endoplasmic reticulum resident protein BiP, whereas DeltaE-torsin A resided in large spheroid intracellular structures exclusive of BiP immunoreactivity. These results initially suggested that DeltaE-torsin A might exist as insoluble aggregates. However, both torsin A and DeltaE-torsin A were readily solubilized by nonionic detergents, were similarly accessible to proteases, and displayed equivalent migration patterns on sucrose gradients. Collectively, these data support that both the wild type and torsion dystonia-associated forms of torsin A are properly folded, lumenal proteins of similar oligomeric states. The potential relationship between the altered subcellular distribution of DeltaE-torsin A and the disease-inducing phenotype of the protein is discussed.  (+info)

(5/87) A genetic study of torsion dystonia.

A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the autosomal recessive variety. The remaining nine to 11 patients with generalized childhood dystonia are thought, because of a probable paternal age effect, to be examples of new dominant mutations. Since fitness with childhood onset is 1/20 of normal, most childhood dominant cases appear sporadically. Most of the other 15 patients (12 with onset in adult life) appear to have a non-genetic torsion dystonia, although an example of a benign adult-onset dominant form associated with a tremor has been observed. It is concluded that there are at least two forms of genetic torsion dystonia, an autosomal recessive form with onset in childhood, which, on evidence from America, is particularly common in Ashkenazi Jews, and one or more dominant forms, with onset in childhood or adult life. The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogenous but unidentified causes.  (+info)

(6/87) Childhood organic neurological disease presenting as psychiatric disorder.

Over a period of one year 12 children with complaints which had been diagnosed as due to a psychiatric disorder presented to a paediatric neurological unit where neurological disease was diagnosed. The group was characterized by behavioural symptoms such as deteriorating school performance, visual loss, and postural disturbance, which are unusual in children attending child psychiatric departments. It is suggested that where there is diagnostic uncertainty the presence of these physical symptoms calls for periodic neurological reassessment, and attention is drawn to the rare but serious disorders which may thus be diagnosed. Making an organic diagnosis, however, should not preclude psychosocial management of emotional reactions in these families.  (+info)

(7/87) TorsinA: movement at many levels.

TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement.  (+info)

(8/87) Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldom reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia exemplified by DYT1-dystonia are outlined.  (+info)

  • Disease
  • a neurological disorder, caused by disease of the basal ganglia, in which the muscles of the trunk, shoulders, and neck go into spasm, so that the head and limbs are held in unnatural positions dystonia dys·to·ni·a (dĭs-tō'nē-ə) n. (definithing.com)
  • A rare crippling disease, dystonia musculorum deformans, kept her to a wheelchair from age 14, but that didn't stop her. (wikipedia.org)
  • different
  • Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern. (scielo.br)
  • cause
  • The main concern for this dystonia is that it can cause the eyelids to close involuntarily and for indefinite periods of time. (wikipedia.org)