Dystonia is a movement disorder characterized by sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs. Dystonia is often confused with spasticity or rigidity and is even mistakenly attributed to psychogenic causes. This review covers recent advances in the causes and treatment of both primary and secondary dystonias, including those that are drug-induced, related to acquired brain lesions, or part of heredodegenerative syndromes.
"Despite the availability of genetic testing, there still remains a marked delay in establishing the diagnosis with a delay of 15.2±13.7 years . Differential diagnosis for some DRD patients is difficult with early-onset Parkinson's disease, cerebral palsy, spastic paraplegia, and early-onset primary dystonia, et al , . Besides the wide spectrum of phenotypes, unknown genetic causes were found in five percent of DRD cases . "
[Show abstract][Hide abstract] ABSTRACT: Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical dopa-responsive dystonia pedigrees. One pedigree, presented with prominent parkinsonism, was misdiagnosed as Parkinson's disease until a known mutation in GCH1 (GTP cyclohydrolase 1) gene (NM_000161.2: c.631_632delAT, p.Met211ValfsX38) was found. The other pedigree was detected with a new compound heterozygous mutation in TH (tyrosine hydroxylase) gene [(NM_000360.3: c.911C>T, p.Ala304Val) and (NM_000360.3: c.1358G>A, p.Arg453His)], whose proband, a pregnant woman, required a rapid and less-biased genetic diagnosis. In conclusion, we demonstrated that exome sequencing could provide a precise and rapid genetic testing in the diagnosis of Mendelian diseases, especially for diseases with wide phenotypes.
PLoS ONE 09/2014; 9(9):e106388. DOI:10.1371/journal.pone.0106388 · 3.23 Impact Factor
"It can involve any part of the body, but it most often occurs in the neck (cervical dystonia), the eyelids (blepharospasm), or hands (task-specific or focal hand dystonia) . Most focal dystonias are primary, though secondary forms are also known . "
[Show abstract][Hide abstract] ABSTRACT: Treatment options for dystonia are not curative but symptomatic; the treatment of choice for focal dystonias is repeated botulinum toxin injections. Here, we present the case of a 46-year-old beautician with focal dystonia in her left hand that affected her ability to work. Pharmacological treatment with clonazepam and gabapentin failed to resolve her symptoms and was discontinued due to side effects (sleepiness, gastrointestinal disorders). Intramuscular injection of botulinum toxin (incobotulinumtoxinA, Xeomin) into the extensor digitorum communis (35 U), flexor carpi radialis (35 U), and flexor digitorum superficialis (30 U) muscles resulted in complete resolution of symptoms at clinical assessments at 1, 3, 6, and 10 months after the injections, confirmed by the results of surface electromyography 10 months after treatment. The patient was able to work again 1 month after treatment. No reinjection has been necessary at the last evaluation (12 months after treatment). In conclusion, botulinum toxin is an effective treatment for focal dystonia that can have long-lasting effects and can improve patients' ability to work and quality of life.
"Dystonia is a movement disorder characterized by patterned directional and often sustained muscle contractions and causing twisting and repetitive movements or abnormal postures [1,2]. Dystonia is also commonly classified by three criteria: anatomical distribution (focal, segmental, or generalized); age of symptom onset (juvenile or adult onset) and etiology, primary, secondary, or symptomatic. "
[Show abstract][Hide abstract] ABSTRACT: Deep brain stimulation (DBS) is an effective surgical treatment for medication-refractory movement disorders, and has been approved by the United States Food and Drug Administration for treatment of dystonia. The success of DBS in the treatment of dystonia depends on our understanding of the anatomy and physiology of this disorder and close collaboration between neurosurgeons, neurologists, clinical neurophysiologists, neuroradiologists and neuropsychologists. Currently, pallidal DBS is an established treatment option for medically refractive dystonia. This review is intended to provide a comprehensive review of the use of DBS for dystonia, focusing mainly on the surgical aspects, clinical outcome, MRI findings and side effects of DBS.
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