Dystonia: Difference between revisions

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== Introduction ==
== Introduction/Definition ==
Dystonia is a movement disorder in which involuntary contractions of muscles occur. It is characterised by sustained muscle contractions and abnormal trunk, neck, face, arms, and legs postures.<ref name=":0">Tarsy D, Simon DK. [https://www.nejm.org/doi/full/10.1056/NEJMra055549 Dystonia]. New England Journal of Medicine. 2006 Aug 24;355(8):818-29.</ref>The term "Dystonia" was coined by Oppenheim in 1911 to express the disorder of changing muscle tone and repetitive muscle spasms. Its original name was ''dystonia musculorum deformans''  which was later changed to ''torsion dystonia'' due changing understanding of the problem.
Dystonia is a movement disorder in which involuntary contractions of muscles occur. It is characterised by sustained muscle contractions and abnormal trunk, neck, face, arms, and legs postures.<ref name=":0">Tarsy D, Simon DK. [https://www.nejm.org/doi/full/10.1056/NEJMra055549 Dystonia]. New England Journal of Medicine. 2006 Aug 24;355(8):818-29.</ref>The term "Dystonia" was coined by Oppenheim in 1911 to express the disorder of changing muscle tone and repetitive muscle spasms. Its original name was ''dystonia musculorum deformans''  which was later changed to ''torsion dystonia'' due changing understanding of the problem.


Dystonia is easily confused with other diagnoses such as [[spasticity]] and [[rigidity]].<ref name=":0" />
Dystonia is easily confused with other diagnoses such as [[spasticity]] and [[rigidity]].<ref name=":0" />This condition can be present separately or in combination with [[chorea]], [[myoclonus]], [[tremor]] and [[parkinsonism]].<ref>di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Di Lazzaro V. [https://www.mdpi.com/2075-1729/12/2/206 Classification of Dystonia]. Life. 2022 Jan 29;12(2):206.</ref><ref name=":1">Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE. [https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mds.25475 Phenomenology and classification of dystonia: a consensus update]. Movement disorders. 2013 Jun 15;28(7):863-73.</ref>


This condition can be present separately or present in combination with [[chorea]], [[myoclonus]], [[tremor]] and [[parkinsonism]].<ref>di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Di Lazzaro V. [https://www.mdpi.com/2075-1729/12/2/206 Classification of Dystonia]. Life. 2022 Jan 29;12(2):206.</ref><ref>Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE. [https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mds.25475 Phenomenology and classification of dystonia: a consensus update]. Movement disorders. 2013 Jun 15;28(7):863-73.</ref>
According to <u>'''Movement Disorder Society'''</u>, there are 3 more sub-definitions of Dystonia-
 
* Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive, movements, postures, or both.
* Dystonic movements are typically patterned, twisting, and may be tremulous.
* Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.<ref name=":1" />


== Epidemiology ==
== Epidemiology ==
* True prevalence of Dystonia still remains  unclear due to the fact that this disorder encompasses a wide range of classification.<ref name=":2">Albanese A, Di Giovanni M, Lalli S. [https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.13762 Dystonia: diagnosis and management]. European journal of neurology. 2019 Jan;26(1):5-17.</ref> Although it's not rare to see dystonia in neurologically affected populations.
* Patients with dystonia represent ~20% of patients in movement disorder clinics.<ref>Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP. [https://www.nature.com/articles/s41572-018-0023-6 Dystonia]. Nature reviews Disease primers. 2018 Sep 20;4(1):1-23.</ref><ref>Jankovic J. [https://www.sciencedirect.com/science/article/abs/pii/S1474442209701838 Treatment of hyperkinetic movement disorders]. The Lancet Neurology. 2009 Sep 1;8(9):844-56.</ref><ref name=":3">Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. [https://movementdisorders.onlinelibrary.wiley.com/doi/abs/10.1002/mds.25244 The prevalence of primary dystonia: a systematic review and meta‐analysis]. Movement Disorders. 2012 Dec;27(14):1789-96.</ref>
* Dystonia cases accounts for 15-30 cases per 100,000 in general population.<ref>Camfield L, Ben-Shlomo Y, Warner TT. [https://scholar.google.com/scholar?hl=en&as_sdt=0%2C5&q=Epidemiological+Study+of+Dystonia+in+Europe+Collaborative+Group.+A+prevalence+study+of+primary+dystonia+in+eight+European+countries.+J+Neurol+2000%3B+247%3A+787%E2%80%93792.&btnG= Epidemiological study of Dystonia in Europe Collaborative Group impact of cervical dystonia on quality of life]. Mov Disord. 2002;17(4):838-41.</ref><ref name=":3" /><ref name=":2" />
* In a study of a random sample of the population over 50 years of age, the prevalence of isolated dystonia was concluded to be 732 per 100 000, suggesting that in the aging population dystonia is a common neurological disorder.<ref name=":2" /><ref>Müller J, Kiechl S, Wenning GK, Seppi K, Willeit J, Gasperi A, Wissel J, Gasser T, Poewe W. [https://n.neurology.org/content/59/6/941.short The prevalence of primary dystonia in the general community]. Neurology. 2002 Sep 24;59(6):941-3.</ref>
* Women are more likely to be affected with this condition than men with a ratio of 2:1.<ref name=":2" />
* Adult-onset focal dystonia syndromes are by far the most frequent presentations of this disease. In recent researches on focal syndromes, the majority of patients had cervical dystonia (69%) or blepharospasm (17%) whilst other forms were much rarer: limb dystonia (3%–7%), spasmodic dysphonia (1%–3%), musician’s dystonia (3%) and oromandibular dystonia (1%).<ref name=":2" />


== Quality of life ==
== Quality of life ==

Revision as of 07:47, 14 July 2022

Original Editor - Muskan Rastogi Top Contributors - Muskan Rastogi and Neha Duhan
This article or area is currently under construction and may only be partially complete. Please come back soon to see the finished work! (14/07/2022)

Introduction/Definition[edit | edit source]

Dystonia is a movement disorder in which involuntary contractions of muscles occur. It is characterised by sustained muscle contractions and abnormal trunk, neck, face, arms, and legs postures.[1]The term "Dystonia" was coined by Oppenheim in 1911 to express the disorder of changing muscle tone and repetitive muscle spasms. Its original name was dystonia musculorum deformans which was later changed to torsion dystonia due changing understanding of the problem.

Dystonia is easily confused with other diagnoses such as spasticity and rigidity.[1]This condition can be present separately or in combination with chorea, myoclonus, tremor and parkinsonism.[2][3]

According to Movement Disorder Society, there are 3 more sub-definitions of Dystonia-

  • Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive, movements, postures, or both.
  • Dystonic movements are typically patterned, twisting, and may be tremulous.
  • Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.[3]

Epidemiology[edit | edit source]

  • True prevalence of Dystonia still remains unclear due to the fact that this disorder encompasses a wide range of classification.[4] Although it's not rare to see dystonia in neurologically affected populations.
  • Patients with dystonia represent ~20% of patients in movement disorder clinics.[5][6][7]
  • Dystonia cases accounts for 15-30 cases per 100,000 in general population.[8][7][4]
  • In a study of a random sample of the population over 50 years of age, the prevalence of isolated dystonia was concluded to be 732 per 100 000, suggesting that in the aging population dystonia is a common neurological disorder.[4][9]
  • Women are more likely to be affected with this condition than men with a ratio of 2:1.[4]
  • Adult-onset focal dystonia syndromes are by far the most frequent presentations of this disease. In recent researches on focal syndromes, the majority of patients had cervical dystonia (69%) or blepharospasm (17%) whilst other forms were much rarer: limb dystonia (3%–7%), spasmodic dysphonia (1%–3%), musician’s dystonia (3%) and oromandibular dystonia (1%).[4]

Quality of life[edit | edit source]

Aetiology/Causes[edit | edit source]

Classification[edit | edit source]

Pathophysiology[edit | edit source]

Clinical features[edit | edit source]

Examination[edit | edit source]

Diagnosis[edit | edit source]

Investigation[edit | edit source]

Screening and Prevention[edit | edit source]

Treatment[edit | edit source]

References[edit | edit source]

  1. 1.0 1.1 Tarsy D, Simon DK. Dystonia. New England Journal of Medicine. 2006 Aug 24;355(8):818-29.
  2. di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Di Lazzaro V. Classification of Dystonia. Life. 2022 Jan 29;12(2):206.
  3. 3.0 3.1 Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE. Phenomenology and classification of dystonia: a consensus update. Movement disorders. 2013 Jun 15;28(7):863-73.
  4. 4.0 4.1 4.2 4.3 4.4 Albanese A, Di Giovanni M, Lalli S. Dystonia: diagnosis and management. European journal of neurology. 2019 Jan;26(1):5-17.
  5. Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP. Dystonia. Nature reviews Disease primers. 2018 Sep 20;4(1):1-23.
  6. Jankovic J. Treatment of hyperkinetic movement disorders. The Lancet Neurology. 2009 Sep 1;8(9):844-56.
  7. 7.0 7.1 Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta‐analysis. Movement Disorders. 2012 Dec;27(14):1789-96.
  8. Camfield L, Ben-Shlomo Y, Warner TT. Epidemiological study of Dystonia in Europe Collaborative Group impact of cervical dystonia on quality of life. Mov Disord. 2002;17(4):838-41.
  9. Müller J, Kiechl S, Wenning GK, Seppi K, Willeit J, Gasperi A, Wissel J, Gasser T, Poewe W. The prevalence of primary dystonia in the general community. Neurology. 2002 Sep 24;59(6):941-3.