Spasmodic torticollis

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Overview

Spasmodic torticollis (ST), commonly known as cervical dystonia (CD). It is a kind of focal dystonia that affects adults. It is distinguished by abrupt and involuntary spasms of the muscles of the neck, head, and shoulders. These spasms are typically painful and cause the neck to twist to one side, resulting in an unnatural posture and hyperactivity symptoms. The disorder results from aberrant impulses in the central nerves. Several genes are considered to be involved in the development of cervical dystonia. Diseases itself is not life-threatening but the pain and irregular posture could affect the daily life routine [1][2][3].Some evidence suggests that ion channel dysfunction as the prognostic factor of dystonia[4][5].

Pathophysiology

It is unclear what causes ST, but some studies have made progress in defining the mechanism of CD.  Given disease is categorized as a neurological ailment, Investigation have shown that disruption of neuronal signaling may be a pathogenic feature. This idea is supported by research that links CD to major neurotransmitter receptors such as Dopamine D2 Receptor (DRD2), Dopamine Transporter (DAT), Serotonin Transporter (SERT), and GABA receptors[6]. Research linked nine biological processes to cervical dystonia (CD), including pathways related to carbohydrate and lipid metabolism. In CD patients altered levels of dopaminergic and serotonergic compounds in plasma are found, indicating potential connections to motor and non-motor symptoms[7].  MRI and voxel-based morphometry techniques were utilized to uncover the structural and functional problems in non-task-specific dystonia[8][9][10][11]. These abnormalities include white matter microstructural and grey matter changes in numerous areas of the brain, which are important in regulating movement and coordination. The damaged parts of the brain include the basal ganglia, thalamus, cerebellum, and cerebral cortex, all of which play essential roles in network models. According to the study, the brain stem, thalamus, corpus callosum, anterior limb/genu of the internal capsule, cerebellum, primary sensorimotor cortex, WM of the middle/inferior frontal gyrus, and inferior temporal gyrus are the locations where white and grey matter are altered[11][12][13]. Furthermore, unusual connections have been identified between the pallidum and brain stem [14], the dentate-subthalamic tract, the thalamus, middle frontal gyrus, and the brain stem [15], as well as the globus pallidus, putamen, thalamus, and sensorimotor cortices(14). DTI investigations have revealed that the presence of anomalies in these locations suggests that CD may be characterized by widespread and substantial loss of WM integrity[16].

Etiology

The irregular lifestyle may be the reason for the ST including Desk work, working with corporations, long sitting and working hours, workload and irregular posture, rapid recitatives moment, poor gravitational alignment and another reason could be the caffeine consumption and stress can cause over activity of the pericranial and cervical muscles[17][18]. Except for these reasons some mutations are also involved in the pathogeny of CD patients. According to recent research, there are substantial links between the risk of getting CD and the genes COL8A1 (rs2219975, chromosome 3) and DENND1A. The study also found that a low-frequency variation (rs147331823) in GABBR2 was linked to an earlier start of CD. Patients with this variation generally develop symptoms at 16.4 ± 2.9 years old[19]. In multiple ethnicities NALCN, the TOR1A gene is associated with dystonia In CD Neuronal signaling dysregulation is also the cause of the disease[20][21].

Epidemiology

ST is the most common type of dystonia with a prevalence of 20–38.1 cases per million in Asian countries however European countries and the US report high incidence  (44.3–183.1 cases per million and 89–4100 cases per million, respectively). This condition mostly affects women aged 50 - 60 years as reported in studies [22][23].

Clinical presentation [24]

Symptoms can range from mild to moderate initially focal dystonia is characterized by various head postures including torticollis, laterocollis, anterocollis, and retrocollis

  •       Neck pain (musculoskeletal pain)
  •   Decrease neck mobility
  •       Head stuck in cock- robin posture
  •     Limited moment of the upper back part of the body
  •     Tremor with abnormal head posture.
  •      Occasional spasms and stiffness.
  •     Swelling at stiff side
  •     Tingling sensation and numbness
  •     Disturb Speech
  •     Cognitive impairment

    Psychiatric disorder symptoms are not mostly manifest immediately after the onset of the problem and in some cases, patients recover without any medical treatment  

Diagnosis

The most prevalent form of dystonia seen in neurological clinics is ST. Despite its prevalence, there is no particular or standard diagnostic test that can be used in clinical follow-up[25], thus, diagnosis relies on clinical evaluation alongside electromyography (EMG) and X-rays. Clinical assessment of CD often involves employing tools such as the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), Global Dystonia Rating Scale (GDS), and Cervical Dystonia Impact Profile-58 (CDIP-58). These assessment scales are widely utilized to gauge the severity, disability, and impact on the quality of life associated with the condition.

Treatment and management

The manifestation is slow after the onset of the disease and sometimes patients are healed without any medical intervention curative treatment for ST is not available yet but fortunately, palliative treatment is available. Treatment intervention is given to limit the damage caused by the disease[26]there are two types of treatment are offered to ST patients one is surgical and the second one is nonsurgical (including physical therapy, Oral medication, and botulinum toxin injections). Surgery is supposed to be the most common approach for the treatment because the nonsurgical intervention cannot provide long-term relief. In 1641 German surgeon Isaac Minnius amputee the SCM for the first time to treat ST[27]and traditional Chinese medicine practitioners apply acupuncture method to treat the ST and show the positive results by improving neck stiffness, and anxiety and help to improve neck mobility .

Botulinum toxin (BT)

Before the introduction of botulinum toxin type A (BTA) injections for cervical dystonia (CD), the main pharmacological treatment was trihexyphenidyl, an anticholinergic drug. BTA injections are now the preferred treatment as they have greatly improved patients' quality of life by relieving symptoms. However, some people may not respond well to BTA or develop resistance to it. As a result, botulinum toxin type B (BTB) injections have emerged as a viable alternative therapy. Ongoing research is still being conducted to determine the optimal doses for both BTA and BTB. The goal is to achieve the best combination of maximum clinical efficacy and minimal unwanted side effects[28].

Physical Interventions

Physical treatment options for cervical dystonia involve several approaches such as biofeedback, mechanical braces, and the geste antagonist technique. In addition, physical therapy has a crucial role in managing ST by providing stretching and strengthening exercises that help patients maintain proper head alignment with their body[29]. Patients have ranked physical therapy as the second most effective treatment for cervical dystonia, right after botulinum toxin injections[30]. Furthermore, patients have reported even greater improvements when physiotherapy is combined with botulinum toxin injections compared to injections alone[31]. A study investigated a physiotherapy program for cervical dystonia, which included muscle stretching and relaxation, balance and coordination training, as well as exercises for muscle strengthening and endurance. The results showed a significant decrease in pain and severity of dystonia, along with improvements in postural awareness and overall quality of life[32].

Others

Some lifestyle habits can help overcome diseases, including shoulder and upper back exercises, improving working and sitting posture, a balanced diet, and ceasing consumption of caffeine.

  1. ↑ Zhu L, Meng H, Zhang W, Xie W, Sun H, Hou S (2023). "The pathogenesis of blepharospasm". Front Neurol. 14: 1336348. doi:10.3389/fneur.2023.1336348. PMC 10808626 Check |pmc= value (help). PMID 38274886 Check |pmid= value (help).
  2. ↑ Nałecz KA (1989). "[Functional and structural aspects of transport of low molecular weight compounds through biological membranes]". Postepy Biochem. 35 (4): 437–67. PMID 2484944.
  3. ↑ Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC; et al. (2023). "Isolated Cervical Dystonia: Diagnosis and Classification". Mov Disord. 38 (8): 1367–1378. doi:10.1002/mds.29387. PMC 10528915 Check |pmc= value (help). PMID 36989390 Check |pmid= value (help).
  4. ↑ Zachou A, Palaiologou D, Kanavakis E, Anagnostou E (2022). "Retrocollis as the cardinal feature in a de novo ITRP1 variant". Brain Dev. 44 (5): 347–352. doi:10.1016/j.braindev.2022.01.005. PMID 35148930 Check |pmid= value (help).
  5. ↑ Cocoș R, Raicu F, Băjenaru OL, Olaru I, Dumitrescu L, Popescu BO (2021). "CACNA1B gene variants in adult-onset isolated focal dystonia". Neurol Sci. 42 (3): 1113–1117. doi:10.1007/s10072-020-04778-8. PMC 7870633 Check |pmc= value (help). PMID 33051750 Check |pmid= value (help).
  6. ↑ Liu Y, Xing H, Yokoi F, Vaillancourt DE, Li Y (2021). "Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia". Behav Brain Res. 403: 113137. doi:10.1016/j.bbr.2021.113137. PMC 8165729 Check |pmc= value (help). PMID 33476687 Check |pmid= value (help).
  7. ↑ Hinduja A, Chokroverty S, Hanna P, Grewal RP (2008). "Dystonia with superimposed myasthenia gravis: An experiment in nature". Mov Disord. 23 (11): 1626–7. doi:10.1002/mds.22166. PMID 18581471.
  8. ↑ Battistella G, Termsarasab P, Ramdhani RA, Fuertinger S, Simonyan K (2017). "Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks". Cereb Cortex. 27 (2): 1203–1215. doi:10.1093/cercor/bhv313. PMC 6075177. PMID 26679193.
  9. ↑ Giannì C, Piervincenzi C, Belvisi D, Tommasin S, De Bartolo MI, Ferrazzano G; et al. (2023). "Cortico-Subcortical White Matter Bundle Changes in Cervical Dystonia and Blepharospasm". Biomedicines. 11 (3). doi:10.3390/biomedicines11030753. PMC 10044819 Check |pmc= value (help). PMID 36979732 Check |pmid= value (help).
  10. ↑ Norris SA, Morris AE, Campbell MC, Karimi M, Adeyemo B, Paniello RC; et al. (2020). "Regional, not global, functional connectivity contributes to isolated focal dystonia". Neurology. 95 (16): e2246–e2258. doi:10.1212/WNL.0000000000010791. PMC 7713779 Check |pmc= value (help). PMID 32913023 Check |pmid= value (help).
  11. ↑ 11.0 11.1 Pontillo G, Castagna A, Vola EA, Macerollo A, Peluso S, Russo C; et al. (2020). "The cerebellum in idiopathic cervical dystonia: A specific pattern of structural abnormalities?". Parkinsonism Relat Disord. 80: 152–157. doi:10.1016/j.parkreldis.2020.09.033. PMID 33010532 Check |pmid= value (help).
  12. ↑ Prell T, Peschel T, Köhler B, Bokemeyer MH, Dengler R, Günther A; et al. (2013). "Structural brain abnormalities in cervical dystonia". BMC Neurosci. 14: 123. doi:10.1186/1471-2202-14-123. PMC 3852757. PMID 24131497.
  13. ↑ Ramdhani RA, Kumar V, Velickovic M, Frucht SJ, Tagliati M, Simonyan K (2014). "What's special about task in dystonia? A voxel-based morphometry and diffusion-weighted imaging study". Mov Disord. 29 (9): 1141–50. doi:10.1002/mds.25934. PMC 4139455. PMID 24925463.
  14. ↑ Blood AJ, Kuster JK, Woodman SC, Kirlic N, Makhlouf ML, Multhaupt-Buell TJ; et al. (2012). "Evidence for altered basal ganglia-brainstem connections in cervical dystonia". PLoS One. 7 (2): e31654. doi:10.1371/journal.pone.0031654. PMC 3285161. PMID 22384048.
  15. ↑ Sondergaard RE, Rockel CP, Cortese F, Jasaui Y, Pringsheim TM, Sarna JR; et al. (2021). "Microstructural Abnormalities of the Dentatorubrothalamic Tract in Cervical Dystonia". Mov Disord. 36 (9): 2192–2198. doi:10.1002/mds.28649. PMID 34050556 Check |pmid= value (help).
  16. ↑ Guo Y, Peng K, Liu Y, Zhong L, Dang C, Yan Z; et al. (2021). "Topological Alterations in White Matter Structural Networks in Blepharospasm". Mov Disord. 36 (12): 2802–2810. doi:10.1002/mds.28736. PMID 34320254 Check |pmid= value (help).
  17. ↑ Sławek J, Jost WH (2021). "Botulinum neurotoxin in cervical dystonia revisited - recent advances and unanswered questions". Neurol Neurochir Pol. 55 (2): 125–132. doi:10.5603/PJNNS.a2021.0029. PMID 33822352 Check |pmid= value (help).
  18. ↑ Brunori A, Greco R, Bruni P, Delitala A, Chiappetta F (1996). "Surgical treatment of spasmodic torticollis: is there a role for microvascular decompression? With an illustrative case report". J Neurosurg Sci. 40 (1): 43–51. PMID 8913960.
  19. ↑ Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R; et al. (2021). "A Multi-center Genome-wide Association Study of Cervical Dystonia". Mov Disord. 36 (12): 2795–2801. doi:10.1002/mds.28732. PMC 8688173 Check |pmc= value (help). PMID 34320236 Check |pmid= value (help).
  20. ↑ Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D; et al. (2014). "Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel". Mov Disord. 29 (2): 245–51. doi:10.1002/mds.25732. PMC 4208301. PMID 24227479.
  21. ↑ Timerbaeva SL, Abramycheva NY, Rebrova OY, Illarioshkin SN (2015). "TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia". Int J Neurosci. 125 (9): 671–7. doi:10.3109/00207454.2014.962653. PMID 25203860.
  22. ↑ Comella C, Bhatia K (2015). "An international survey of patients with cervical dystonia". J Neurol. 262 (4): 837–48. doi:10.1007/s00415-014-7586-2. PMC 4544552. PMID 25605434.
  23. ↑ Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T (2012). "The prevalence of primary dystonia: a systematic review and meta-analysis". Mov Disord. 27 (14): 1789–96. doi:10.1002/mds.25244. PMID 23114997.
  24. ↑ Zafarshamspour S, Lesha E, Cecia A, George H, Ghasemi-Rad M, Trinh K; et al. (2024). "Traumatic atlantoaxial rotatory fixation in adults: a systematic review of published cases". Neurosurg Rev. 47 (1): 90. doi:10.1007/s10143-024-02315-1. PMID 38376669 Check |pmid= value (help).
  25. ↑ Németh AH (2002). "The genetics of primary dystonias and related disorders". Brain. 125 (Pt 4): 695–721. doi:10.1093/brain/awf090. PMID 11912106.
  26. ↑ Gelisin O, Susgun S, Toruntay C, Yabaci A, Baran G, Gursoy AEB; et al. (2023). "Evaluation of miR-526b-3p, miR-1179, miR-3529-3p, miR-5011-5p as potential diagnostic biomarkers in isolated cervical dystonia". Rev Neurol (Paris). 179 (6): 563–569. doi:10.1016/j.neurol.2022.10.008. PMID 36759300 Check |pmid= value (help).
  27. ↑ Xu B, Ma W, Li H, Li S (2021). "Improvements in Nerve Dissection Surgery Methodology for Spasmodic Torticollis Treatment". World Neurosurg. 156: 33–42. doi:10.1016/j.wneu.2021.08.094. PMID 34464776 Check |pmid= value (help).
  28. ↑ Boyce MJ, McCambridge AB, Bradnam LV, Canning CG, De Oliveira CQ, Verhagen AP (2024). "Botulinum toxin and conservative treatment strategies in people with cervical dystonia: an online survey". J Neural Transm (Vienna). 131 (1): 43–51. doi:10.1007/s00702-023-02707-5. PMC 10770185 Check |pmc= value (help). PMID 37831150 Check |pmid= value (help).
  29. ↑ Velickovic M, Benabou R, Brin MF (2001). "Cervical dystonia pathophysiology and treatment options". Drugs. 61 (13): 1921–43. doi:10.2165/00003495-200161130-00004. PMID 11708764.
  30. ↑ Silfors A, Solders G (2002). "[Living with dystonia. A questionnaire study among members of the Swedish Dystonia Patient Association]". Lakartidningen. 99 (8): 786–9. PMID 11894618.
  31. ↑ Tassorelli C, Mancini F, Balloni L, Pacchetti C, Sandrini G, Nappi G; et al. (2006). "Botulinum toxin and neuromotor rehabilitation: An integrated approach to idiopathic cervical dystonia". Mov Disord. 21 (12): 2240–3. doi:10.1002/mds.21145. PMID 17029278.
  32. ↑ Zetterberg L, Halvorsen K, Färnstrand C, Aquilonius SM, Lindmark B (2008). "Physiotherapy in cervical dystonia: six experimental single-case studies". Physiother Theory Pract. 24 (4): 275–90. doi:10.1080/09593980701884816. PMID 18574753.
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