Focal dystonia

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Focal dystonia is a neurological condition that affects a muscle or group of muscles in a specific part of the body causing involuntary muscular contractions and abnormal postures. For example, in focal hand dystonia, the fingers either curl into the palm or extend outward without control. In musicians, the condition is referred to as Musician's Focal Dystonia, or simply musician's dystonia. In sports, it is commonly referred to as (the) yips. It is believed that all adult-onset dystonias are a product of combined genetic factors and environmental modifiers.[1]

Causes[edit]

The cause of dystonia is not precisely understood. Misfiring of neurons in the sensorimotor cortex, a thin layer of neural tissue covering the brain, is thought to cause contractions. The source of this misfiring may be a result of impaired inhibitory mechanisms during muscle contraction.[2] When the brain tells a given muscle to contract, it simultaneously silences muscles that would oppose the intended movement. In dystonia, it appears that the ability of the brain to inhibit the surrounding muscles is impaired, leading to loss of selectivity.[3]

The sensorimotor cortex is organized as discrete "maps" of the human body. Under normal conditions, each body part (such as individual fingers) occupies a distinct area on these cortical maps. In dystonia, these maps lose their distinct borders and overlap occurs.[4] Exploration of this initially involved over-training particular finger movements in non-human primates, which resulted in the development of focal hand dystonia. Examination of the primary somatosensory cortex in the trained animals showed grossly distorted representations of the maps pertaining to the fingers when compared to the untrained animals.[5] Additionally, these maps in the dystonic animals had lost the distinct borders that were noted in the untrained animals.

Imaging studies in humans with focal dystonia have confirmed this finding.[6] Also, synchronous afferent stimulation of peripheral muscles induces organizational changes in motor representations, characterized both by an increase in map size of stimulated muscles and a reduction in map separation, as assessed using transcranial magnetic stimulation.[7]

The cross-connectivity between areas that are normally segregated in the sensory cortex may prevent normal sensorimotor feedback and so contribute to the observed co-contraction of antagonist muscle groups, and inappropriately timed and sequenced movements that underlie the symptoms of focal dystonia. It is hypothesized that a deficit in inhibition caused by a genetically mediated loss of inhibitory interneurons may be the underlying cause of the deficits observed in dystonia.[8]

While usually painless, in some instances the sustained contraction and abnormal posturing in dystonia may cause pain. Focal dystonia most typically affects those who rely on fine motor skills (musicians, writers, surgeons, etc.). It is thought that the excessive motor training in these individuals may contribute to the development of dystonia as their cortical maps become enlarged and begin to overlap.[9] Focal dystonia is generally "task specific," meaning that it is only problematic during certain activities.

Notable cases[edit]

  • Andrew Dawes, noted violinist and co-founder of the Orford String Quartet.[10]
  • Christian Münzner, lead guitar of progressive extreme metal band Obscura
  • Leon Fleisher, an international concert pianist, suffered from this affliction in his right hand beginning in the 1960s and switched to only left hand playing. In the 2000s, he regained use of his right hand and did additional performances and recordings with two hands.
  • Alex Klein, formerly the first oboist of the Chicago Symphony
  • Ernestine Whitman, former member of the Atlanta Symphony and currently a professor of flute at Lawrence University
  • Keith Emerson, pianist and keyboard player
  • Warren Deck, tubist and former member of the New York Philharmonic, was diagnosed with focal dystonia in his upper lip, which ended his playing career.
  • Dominic Frasca, Guitarist
  • Gary Graffman, pianist, who changed to performing only with his left hand.
  • Billy McLaughlin, guitarist, switched to playing left-handed when afflicted with dystonia.
  • Liona Boyd, Canadian classical guitarist, known as the “First Lady of the Guitar”, retired from the concert stage for six years in 2003, due to focal dystonia that affected her right hand. She worked to retrain her right hand and since 2009 she has been performing again as a guitarist, singer and songwriter.[11]
  • Andy Billups, bass guitarist with British rock group, The Hamsters, has made a partial recovery; he plays by using modified guitar plectrums.
  • David Leisner, classical guitarist, has recovered the full use of his hand after a decade of disability.
  • Badi Assad, Brazilian singer-guitarist, was diagnosed with focal dystonia in 1999; she eventually recovered and resumed her career.[12]
  • Tom Adams, bluegrass banjo player, has focal dystonia in his right hand, and has switched to the guitar.
  • Scott Adams, the writer of the Dilbert comics, has focal dystonia of the right hand, which impedes his artwork.[13]
  • Stuart Cassells, founder of the bagpipe rock group Red Hot Chilli Pipers, announced focal dystonia in September 2011; he has left the band.[14]
  • Apostolos Paraskevas, Greek-American classical guitarist-composer, was struck by focal dystonia to his right hand in 2009. He fully recovered in 2013 after 7,000 hours of personal work in re-constructing his technique. He was able to decode the condition as an unconscious behavioral habit and returned to performing professionally again. His rehabilitation was based on reducing tension in his hand and retraining his brain through proper, relaxed hand movements, practiced extensively. His article A Classical Guitarist's Story of Recovery from Focal Dystonia will be published in London on the Classical Guitar Magazine.
  • Steve Dilling, bluegrass banjo player and founding member of the group, IIIrd Tyme Out. He was forced to retire from the group due to focal dystonia.

Treatment[edit]

This condition is often treated with injections of botox, a commercially prepared form of botulinum toxin. Botox reduces the symptoms of the disorder but it is not a cure for dystonia. Since the root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity, making it possible for patients to recover substantial function that was lost from focal dystonia.[15][16][17]

References[edit]

  1. ^ Hallet, Mark (2011). "Neurophysiology of dystonia: The role of inhibition". Neurobiology of Disease 42: 177–184. doi:10.1016/j.nbd.2010.08.025. 
  2. ^ Hallet, Mark (2011). "Neurophysiology of dystonia: The role of inhibition". Neurobiology of Disease 42: 177–184. doi:10.1016/j.nbd.2010.08.025. 
  3. ^ Hallet, Mark (2011). "Neurophysiology of dystonia: The role of inhibition". Neurobiology of Disease 42: 177–184. doi:10.1016/j.nbd.2010.08.025. 
  4. ^ Byl, NN; Merzenich, MM; Jenkins, WM. (1996). "A primate genesis model of focal dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys". Neurology 47 (2): 508–20. doi:10.1212/wnl.47.2.508. PMID 8757029. 
  5. ^ Byl, NN; Merzenich, MM; Jenkins, WM. (1996). "A primate genesis model of focal dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys". Neurology 47 (2): 508–20. doi:10.1212/wnl.47.2.508. PMID 8757029. 
  6. ^ Bara-Jimenez, W; Catalan, MJ; Hallett, M; Gerloff, C (1998). "Abnormal somatosensory homunculus in dystonia of the hand". Annals of neurology 44 (5): 828–831. doi:10.1002/ana.410440520. PMID 9818942. 
  7. ^ Schabrun SM, & Ridding MC (2007). “The influence of correlated afferent input on motor cortical representations in humans”. Experimental Brain Research, 183(1): 41—49, doi: 10.1007/s00221-007-1019-8
  8. ^ Hallet, Mark (2011). "Neurophysiology of dystonia: The role of inhibition". Neurobiology of Disease 42: 177–184. doi:10.1016/j.nbd.2010.08.025. 
  9. ^ Rosenkranz, Karin; Katherine Butler; Aaron Williamon; John C. Rothwell (November 18, 2009). "Regaining Motor Control in Musician’s Dystonia by Restoring Sensorimotor Organization". The Journal of Neuroscience 29 (46): 14627–14636. doi:10.1523/JNEUROSCI.2094-09.2009. 
  10. ^ http://www.wevancouver.com/news/202340481.html
  11. ^ http://www.classicalguitar.com/about/
  12. ^ Badi Assad's web site
  13. ^ Sordyl, Samantha (2005-05-10). "Scott Adams, Drawing the Line". The Washington Post. Retrieved 2010-05-02. 
  14. ^ http://www.redhotchillipipers.co.uk/spanbNewsbspan/tabid/73/Default.aspx?newsItem=98
  15. ^ Farias J, Yoshie M. Treatment efficacy in an ecologically valid neuropsycological treatment program of 120 professional musicians with focal dystonia, Galene Editions. Amsterdam 2012. ISBN 978-84-615-5124-8.
  16. ^ Farias, J., Sarti-Martínez, MA. Title: "Elite musicians treated by specific fingers motion program to stimulate propiceptive sense", Congreso Nacional De La Sociedad Anatómica Española, Alicante (España), European Journal of Anatomy, p. 110
  17. ^ Open Your Eyes. Freedom from Blepharospasm. Documentary. Out of the Box Productions. http://www.youtube.com/watch?v=BlWXcsjyswY

Sources[edit]