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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Dystonic Disorders

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Disease relevance of Dystonic Disorders


High impact information on Dystonic Disorders

  • Evidence has accumulated in recent years showing that writer's cramp is a real focal motor disorder, with a close relation to dystonia [6].
  • A family history of male deafness should alert clinicians to the possibility of DDP mutation in women with focal dystonias [7].
  • CSF content was decreased in eight patients with dystonic disorders (mean, 13.0 +/- 0.8 pmol/ml CSF compared with 20.6 +/- 1.4 in age-matched normals) [8].
  • Nine patients with various focal dystonias participated in a 12-week, double-blind, crossover comparison of the dopamine agonist, lisuride, and placebo [9].
  • Clinical analogies and linkage findings suggest that the same gene could be responsible for rolandic epilepsy, PED, writer's cramp (WC), and ICCA, with specific mutations accounting for each of these mendelian disorders [10].

Chemical compound and disease context of Dystonic Disorders


Biological context of Dystonic Disorders


Anatomical context of Dystonic Disorders


Gene context of Dystonic Disorders

  • The DYT1 mutation was also detected in 2 patients with multifocal dystonia, 1 of them presenting with involvement of cranial and cervical muscles, and in 2 patients with writer's cramp of both hands with only slight progression [20].
  • Adult-onset focal dystonias: presentation and treatment options [21].
  • We report the occurrence of writer's cramp in a 31 year old B27 positive man with a recent past history of Reiter's syndrome [22].
  • Low striatal D2 receptor binding as assessed by [123I]IBZM SPECT in patients with writer's cramp [23].
  • Mean doses per muscle were 200 mouse units (m.u.) for treating cervical dystonia, 40-120 m.u. for forearm muscles in writers' cramp and 3.7 m.u. for the thyroarytenoid muscle in laryngeal dystonia [24].

Analytical, diagnostic and therapeutic context of Dystonic Disorders


  1. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Asmus, F., Zimprich, A., Tezenas Du Montcel, S., Kabus, C., Deuschl, G., Kupsch, A., Ziemann, U., Castro, M., Kühn, A.A., Strom, T.M., Vidailhet, M., Bhatia, K.P., Dürr, A., Wood, N.W., Brice, A., Gasser, T. Ann. Neurol. (2002) [Pubmed]
  2. Memory-contingent saccades and the substantia nigra postulate for essential blepharospasm. Hotson, J.R., Boman, D.R. Brain (1991) [Pubmed]
  3. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Nygaard, T.G., Trugman, J.M., de Yebenes, J.G., Fahn, S. Neurology (1990) [Pubmed]
  4. Tetrabenazine and movement disorders. Asher, S.W., Aminoff, M.J. Neurology (1981) [Pubmed]
  5. Familial essential tremor in 4 kindreds. Prospects for genetic mapping. Jankovic, J., Beach, J., Pandolfo, M., Patel, P.I. Arch. Neurol. (1997) [Pubmed]
  6. Writer's cramp. Marsden, C.D., Sheehy, M.P. Trends Neurosci. (1990) [Pubmed]
  7. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Swerdlow, R.H., Wooten, G.F. Ann. Neurol. (2001) [Pubmed]
  8. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. LeWitt, P.A., Miller, L.P., Levine, R.A., Lovenberg, W., Newman, R.P., Papavasiliou, A., Rayes, A., Eldridge, R., Burns, R.S. Neurology (1986) [Pubmed]
  9. Lisuride treatment of focal dystonias. Nutt, J.G., Hammerstad, J.P., Carter, J.H., deGarmo, P.L. Neurology (1985) [Pubmed]
  10. Idiopathic epilepsy and paroxysmal dyskinesia. Guerrini, R. Epilepsia (2001) [Pubmed]
  11. Modulation of electromyographic activity of wrist flexor and extensor muscles in patients with writer's cramp. Valls-Solé, J., Hallett, M. Mov. Disord. (1995) [Pubmed]
  12. Nicotine-sensitive writer's cramp. Murase, N., Kaji, R., Sakamoto, T., Shimazu, H., Matumoto, S., Kohar, N., Shibasaki, H., Kimura, J. Mov. Disord. (2000) [Pubmed]
  13. Muscle afferent block by intramuscular injection of lidocaine for the treatment of writer's cramp. Kaji, R., Kohara, N., Katayama, M., Kubori, T., Mezaki, T., Shibasaki, H., Kimura, J. Muscle Nerve (1995) [Pubmed]
  14. Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp. Odergren, T., Stone-Elander, S., Ingvar, M. Mov. Disord. (1998) [Pubmed]
  15. Treatment of cervical dystonia and focal hand dystonia by high cervical continuously infused intrathecal baclofen: a report of 2 cases. Dykstra, D.D., Mendez, A., Chappuis, D., Baxter, T., DesLauriers, L., Stuckey, M. Archives of physical medicine and rehabilitation. (2005) [Pubmed]
  16. Task-specific impairment of motor cortical excitation and inhibition in patients with writer's cramp. Tinazzi, M., Farina, S., Edwards, M., Moretto, G., Restivo, D., Fiaschi, A., Berardelli, A. Neurosci. Lett. (2005) [Pubmed]
  17. Blink reflex studies in focal dystonias: enhanced excitability of brainstem interneurons in cranial dystonia and spasmodic torticollis. Tolosa, E., Montserrat, L., Bayes, A. Mov. Disord. (1988) [Pubmed]
  18. Paroxysmal dyskinesias in childhood. Zorzi, G., Conti, C., Erba, A., Granata, T., Angelini, L., Nardocci, N. Pediatric neurology. (2003) [Pubmed]
  19. Long-term efficacy of botulinum toxin A in treatment of various movement disorders over a 10-year period. Hsiung, G.Y., Das, S.K., Ranawaya, R., Lafontaine, A.L., Suchowersky, O. Mov. Disord. (2002) [Pubmed]
  20. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Grundmann, K., Laubis-Herrmann, U., Bauer, I., Dressler, D., Vollmer-Haase, J., Bauer, P., Stuhrmann, M., Schulte, T., Schöls, L., Topka, H., Riess, O. Arch. Neurol. (2003) [Pubmed]
  21. Adult-onset focal dystonias: presentation and treatment options. Esper, G.J., Charles, P.D., Davis, T.L., Robertson, D. Tennessee medicine : journal of the Tennessee Medical Association. (1997) [Pubmed]
  22. Reiter's cramp. Hughes, R.A., Keat, A.C. Ann. Rheum. Dis. (1990) [Pubmed]
  23. Low striatal D2 receptor binding as assessed by [123I]IBZM SPECT in patients with writer's cramp. Horstink, C.A., Praamstra, P., Horstink, M.W., Berger, H.J., Booij, J., Van Royen, E.A. J. Neurol. Neurosurg. Psychiatr. (1997) [Pubmed]
  24. Treatment of cervical dystonia hand spasms and laryngeal dystonia with botulinum toxin. Lees, A.J., Turjanski, N., Rivest, J., Whurr, R., Lorch, M., Brookes, G. J. Neurol. (1992) [Pubmed]
  25. Rodent models for dystonia research: characteristics, evaluation, and utility. Jinnah, H.A., Hess, E.J., Ledoux, M.S., Sharma, N., Baxter, M.G., Delong, M.R. Mov. Disord. (2005) [Pubmed]
  26. Five-year experience in the treatment of focal movement disorders with low-dose Dysport botulinum toxin. Van den Bergh, P., Francart, J., Mourin, S., Kollmann, P., Laterre, E.C. Muscle Nerve (1995) [Pubmed]
  27. Post whiplash dystonia well controlled by transcutaneous electrical nervous stimulation (TENS): case report. Foley-Nolan, D., Kinirons, M., Coughlan, R.J., O'Connor, P. The Journal of trauma. (1990) [Pubmed]
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