Disease Information for Torsion dystonia, primary/idiopathic

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Facial grimacing
Rigidity/Muscle/movement
Tongue movements/involuntary
Cramping in Extremities
Motor restlessness
Motor restlessness/akathisia
Muscle stiffness/rigidity
Stiffness
Abnormal movements/involuntary
Axial dystonia
Axial dystonia, progressive
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Dystonia
Equinus Posture/Ankles
Extrapyramidal signs
Finger to nose test abnormality
Forced opening/closing mouth
Gait disturbance/abnormality
Hyperkinetic Movement Disorder
Intelligence normal
Involuntary movements
Jerky movements
Motor slowing
Movement or gait disorder/signs
Nuchal dystonia
Odd body posturing
Slow Motor Development
Spasms in Both Legs
Spasms in Neck
Spasticity/Spastic gait
Stiff neck/Nuchal rigidity
Tremor
Tremor in Children
Truncal ataxia
Foot deformity
Wry neck spasm
Walking difficulties
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/5-15 years old
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Gait disorders
Family history/Tremor
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
CT Scan
CT Scan/Head Normal
Associated Diseases & Rule outs
Rule Outs
Cervical herniated disk
Dystonia muscularum deformans
Tardive dyskinesia syndrome
Wilsons disease
Segawa Syndrome/Infantile Parkinsonism
Associated Disease & Complications
Blepharospasm
Clubbed foot/congenital
Dyskinesia
Dystonia muscularum deformans
Extrapyramidal disease/manifestation
Kyphoscoliosis
Limb deformities/anomalies
Neurodevelopmental disorders
Oromandibular facial dystonia syndrome
Torsion dystonia
Torticollis, acquired
Torticollis, congenital
Torticollis
Akinetic Rigid Syndrome
Primary Dystonia
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 9q34
Pathophysiology/Relative GABA CNS deficiency
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/X-linked and autosomal dominant types
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Idiopathic/unclassified/unknown (category)
PROCESS/Movement disorder (ex)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Hyperkinetic Movement disorders
Synonyms
Synonym
Bilateral paraspasm syndrome, Childhood Torsion Disease, CHILDHOOD TORTION DIS, deformans progressive dystonia, Dystonia Deformans Musculorum, Dystonia deformans progressiva, dystonia deformans progressive, Dystonia Idiopathic Torsion, dystonia lenticularis, Dystonia lenticularis (disorder), Dystonia lenticularis syndrome, dystonia musculorum deformans, dystonia torsion, Dystonias Idiopathic Torsion, Dystonias Torsion, Genetic torsion dystonia, Idiopathic torsion dystonia, Idiopathic torsion dystonia (disorder), Idiopathic Torsion Dystonias, lenticularis dystonia, musculorum dystonia deformans, OPPENHEIM ZIEHEN DIS, Oppenheim Ziehen Disease, Progressive Torsion Spasm, Schwalbe disease, Schwalbe Ziehen Oppenheim, Spasm Progressive Torsion, TORSION DIS CHILDHOOD, Torsion Disease Childhood, Torsion Disease of Childhood, torsion dystonia, Torsion dystonia fragment syndrome, Torsion Dystonia Idiopathic, Torsion Spasm Progressive, Ziehen Oppenheim disease, Synonym/Focal torsion dystonia, Synonym/Idiopathic torsion dystonia
Treatment
Drug Therapy - Indication
RX/Baclofen (Lioresal)
RX/Botulinum
RX/Carbamazepine (Tegretol)
RX/Carbidopa-Levodopa (Sinemet)
RX/Trihexyphenidyl (Artane)
Surgical Procedures or Treatments
TX/Botox local injections specific sites
TX/Brain Stimulator implantation
Definition

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face; The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted; Onset is usually in the first or second decade; Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified; --------------(Adams et al;, Principles of Neurology, 6th ed)------------------

Primary dystonia accounts for 90% of cases; Primary dystonias with onset in childhood have previously been termed dystonia musculorum deformans; Childhood-onset dystonias are often inherited, usually in an autosomal dominant pattern; about half of adult-onset cases seem to have a genetic basis; Spontaneous genetic mutation then hereditary evidence with progeny is seen; occasionally there is no answer but more often dominant autosome loci; there are about 13 different clinial syndromes and about 8 gene loci shown; Occasionally, a specific and potentially treatable cause of dystonia can be identified; One of the most important examples is Wilson"s disease ; neurologic symptoms are the initial manifestations in about 50% of patients with this autosomal recessive disorder, which appears during the second or third decade; Tardive dystonia is a persistent form of dystonia caused by exposure to dopamine receptor-blocking drugs such as major tranquilizers (eg, chlorpromazine, thioridazine, fluphenazine, thiothixene, haloperidol, loxapine, amoxapine) and certain antiemetics (eg, prochlorperazine, metoclopramide) ; Levodopa can also cause intermittent dystonia (and focal dystonia may be the initial symptom of Parkinson"s disease); In all drug-induced dystonias, the offending drug should be withdrawn or the dosage reduced if possible; In contrast to focal, segmental, or generalized dystonia, hemidystonia is associated with an identifiable cause in most cases, including subcortical infarction, arteriovenous malformation, abscess, tumor, and other lesions, some of which can be treated surgically; Many other causes of secondary dystonia are possible, but only a few are amenable to therapy; Patients who are socially and occupationally disabled by dystonia despite optimal medical therapy, including botulinum toxin, can sometimes be helped surgically; Surgical procedures include orbicularis myectomy for blepharospasm, cervical rhizotomy for neck dystonia, and thalamotomy, pallidotomy, or deep brain stimulation of the subthalamic nucleus or pallidum for hemidystonia or generalized (predominantly distal) dystonia; Such procedures are effective in most patients but are associated with both potentially serious complications and high rates of symptom recurrence, thus making them a last resort

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