Focal dystonia

Original Editor - Carlos Areia

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Introduction[edit | edit source]

Dystonia is defined as an involuntary contraction of the agonistic and antagonistic muscles, which can lead to repetitive involuntary movements and/or abnormal positions. This occurs most commonly in the hand and is known as Focal Hand Dystonia.

The affected population includes individuals who require repetitive movements in their regular daily life, with one of the most affected populations being musicians and professional writers.[1] In the European and American populations, Focal Dystonia varies its prevalence between 3 and 29.5 per 100.000 inhabitants.[1][2] With dystonia occurring in musicians, it is estimated that 0.5 -1% of all musicians suffer some form of focal dystonia.[1][3] These figures are highly variable if we individualize each case, depending on the instrument and the effort required with each performance; For example, the difference between a rhythm and a soloist guitar player.


Mechanism of Injury / Pathological Process[edit | edit source]

Although the pathological process of Focal Dystonia is still classified as idiopathic, increasing evidence suggested a multifactorial etiology[5] (i.e. the interaction between genetic, neuromuscular, auditory, neural adaptative, anatomic, stressful, repetitive, psychosocial, traumatic, among others). An alteration in tactile discrimination was found in dystonic musicians compared to generalized dystonias and healthy controls; this has been related to the superposition of the areas of the cortical representation of the fingers affected in musicians.[1][6] Other etiological mechanisms are also described in the literature, such as the alteration of inhibitory spinal, trunk, and intracortical as well as alterations in sensorimotor integration.[1]

Many triggering factors have been described in the current literature and can be separated into external and internal factors. Extrinsic factors include spatial, temporal, and spatial constraints, depending on the workload of the respective body part and the complexity of the movements used. Intrinsic factors include the need for control, the need for perfectionism, anxiety, local pain, trauma, overuse and the deficit in inhibitory mechanisms. Predisposing factors such as genetics and sex are also important. These triggering factors combined can affect the manifestation of Dystonia.[7]

Clinical Presentation[edit | edit source]

Some examples of Focal Dystonia are Cervical Dystonia (AKA spasmodic torticollis), which causes the neck to twist or tilt, Musician's Dystonia, Writer's Dystonia, Blepharospasm (bilateral, involuntary, synchronous, forceful eye closure) and Spasmodic Dystonia, among others.

The study by Qiyu Chen et al. suggests that the presence of Head Tremors (HT) and its type depend on a patient’s predominant posture (patients with retrocollis were more prone to have HT than patients with anterocollis), age (earlier age of onset compared to patients without HT), and duration (longer disease duration compared to patients without HT)[8]

Musician's Dystonia is manifested by a loss of voluntary motor movement in repeatedly trained movements. This is a high disabling pathology that can end a musical career; it can be classified according to the instrument played and the movement extensively performed. Normally it occurs without pain although aching has been described after prolonged spasms.[7] This loss of muscle coordination is often accompanied by a co-contraction of antagonist muscles.[7]

Writer's Dystonia or Writer's cramp can be also be manifested by uncontrollable muscle contractions and abnormal postures of the whole upper limb during writing. Tremor and spasms of the hand can also occur.

Diagnostic Procedures[edit | edit source]

Magnetic Resonance Imaging (MRI) - to exclude stroke or tumours involving the basal ganglia

Blood work to assess ceruloplasmin levels - to rule out Wilson's disease (a disorder of copper metabolism that can produce dystonia and other movement disorders)

Differential Diagnosis[edit | edit source]

  • Paroxysmal dystonia: this presents as discrete episodes of abnormal movements lasting from minutes to hours, with intervening periods of normalcy[9]
  • Dopa-responsive dystonia: this is characterized by a diurnal variation of dystonic movements, with improvement in the morning and worsening in the afternoon[10]; it is linked to chromosome 14, which is involved in dopamine synthesis
  • Dystonic tics (which may be associated with the obsessive-compulsive disorder): patients with dystonic tics feel an internal, uncomfortable sensation in the affected body part, and this sensation builds up to an overwhelming "urge" to perform a sustained, tonic tic, For example, head-turning; patients often report relief immediately after performing the tic, but this is soon followed by recurrence of the urge to perform the tic again
  • Iatrogenic causes: dopamine receptor-blocking medications, For example, neuroleptics and phenothiazine-based antiemetics, can produce an acute dystonic reaction from a single dosage, or tardive dystonia from chronic usage[11]

Outcome Measures[edit | edit source]

Motor control and ADL scales

Medical Management[edit | edit source]

The aim of medical management is to manage muscle contractions and limit deformity

  • Drug management targets neurotransmitters that affect muscle movement and include: Anticholinergics[12], Baclofen and benzodiazepines dopamine related medications. [13]
  • Injection therapy of Botulin Toxin directly into the muscle can reduce, and in many cases stop muscle contractions that cause abnormal postures.[14] They may have side effects such as dry mouth, voice changes and weakness.
  • Surgery may be indicated if the symptoms are severe and have not responded to other interventions. Surgery might involve the insertion of electrodes into the brain which are connected to a generator that is placed into the chest. The generator sends signals to the brain which can control muscle contractions and movement. Another surgical intervention is to sever the nerves that control muscle spasm, this is known as Selective Denervation Surgery.
  • Immobilization, in a study by Priori et al, has been shown to have a positive effects on focal dystonia. The possible rational for improvement is the plastic changes that occur at cortical level. Immediately after immobilisation there were signs of weakness, clumsiness and poor limb control, but these symptoms were temporary and in most cases improved within 4 weeks.[15]

Physiotherapy Management[edit | edit source]

The aim of physiotherapy is to ease symptoms and improve function. There are several approaches and will be dependent on symptoms but the most common interventions are:

  • TENS[16]
  • Sensomotor Training[6]
  • Muscle Strengthening
  • Stretching
  • Relaxation Techniques
  • Home exercises[5]
  • Ergonomic changes at the instrument (Musician's dystonia)
  • Behavioral training[17][5]

References[edit | edit source]

  1. 1.0 1.1 1.2 1.3 1.4 Aranguiz, R., Chana-Cuevas, P., Alburquerque, D. Leon, M. (2011). Focal dystonia in musicians. Neurologia, 26(1), 45-52. doi: 10.1016/j.nrl.2010.09.019
  2. Defazio, G., Abbruzzese, G., Livrea, P. Berardelli, A. (2004). Epidemiology of primary dystonia. Lancet Neurol, 3(11), 673-678. doi: 10.1016/s1474-4422(04)00907-x
  3. Jabusch, H. C., Zschucke, D., Schmidt, A., Schuele, S., Altenmuller, E. (2005). Focal dystonia in musicians: treatment strategies and long-term outcome in 144 patients. Mov Disord, 20(12), 1623-1626. doi: 10.1002/mds.20631
  4. Associated Press. Musician Billy McLaughlin Outwits Focal Dystonia. Available from: [last accessed 29/08/16]
  5. 5.0 5.1 5.2 Byl, N. N., Archer, E. S.; McKenzie, A. (2009). Focal hand dystonia: effectiveness of a home program of fitness and learning-based sensorimotor and memory training. J Hand Ther, 22(2), 183-197; quiz 198. doi: 10.1016/j.jht.2008.12.003
  6. 6.0 6.1 Byl, N. N., Nagajaran, S.McKenzie, A. L. (2003). Effect of sensory discrimination training on structure and function in patients with focal hand dystonia: a case series. Arch Phys Med Rehabil, 84(10), 1505-1514.
  7. 7.0 7.1 7.2 Altenmuller, E. Jabusch, H. C. (2010). Focal dystonia in musicians: phenomenology, pathophysiology, triggering factors, and treatment. Med Probl Perform Art, 25(1), 3-9.
  8. Chen Q, Vu JP, Cisneros E, Benadof CN, Zhang Z, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Appelbaum MI. Postural directionality and head tremor in cervical dystonia. Tremor and Other Hyperkinetic Movements. 2020;10.
  9. Demirkiran M, Jankovic J: Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38:571-579
  10. Ichinose H, Ohye T, Takahashi E, et al: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8:236-242
  11. Miller LG, Jankovic J: Neurologic approach to drug-induced movement disorders: a study of 125 patients. South Med J 1990; 83:525-532
  12. Fahn S, Burke R, Stern Y: Antimuscarinic drugs in the treatment of movement disorders. Progr Brain Res 1990; 84:389-397
  13. Termsarasab, P., Thammongkolchai, T., & Frucht, S. J. (2016). Medical treatment of dystonia. Journal of Clinical Movement Disorders, 3(1).
  14. Ceballos-Baumann, A. O., Sheean, G., Passingham, R. E., Marsden, C. D. Brooks, D. J. (1997). Botulinum toxin does not reverse the cortical dysfunction associated with writer's cramp. A PET study. Brain, 120 ( Pt 4), 571-582.
  15. Priori, A., Pesenti, A., Cappellari, A., Scarlato, G. Barbieri, S. (2001). Limb immobilization for the treatment of focal occupational dystonia. Neurology, 57(3), 405-409 (abstract only)
  16. Tinazzi, M., Zarattini, S., Valeriani, M., Stanzani, C., Moretto, G., Smania, N., . . . Abbruzzese, G. (2006). Effects of transcutaneous electrical nerve stimulation on motor cortex excitability in writer's cramp: neurophysiological and clinical correlations. Mov Disord, 21(11), 1908-1913. doi: 10.1002/mds.21081
  17. Berque, P., Gray, H., Harkness, C. McFadyen, A. (2010). A combination of constraint-induced therapy and motor control retraining in the treatment of focal hand dystonia in musicians. Med Probl Perform Art, 25(4), 149-161 (abstract only).
  18. Dr. Larry Santora. Physical therapy for focal hand dystonia. Available from: [last accessed 29/08/16]