The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dystonia. The physiologic effects of botulinum toxin in these 2 disorders also show both similarities and differences. This paper compares and contrasts the physiology of focal hand and cranial dystonias and of botulinum toxin in the management of these disorders.
References
[1]
Defazio, G.; Berardelli, A.; Hallett, M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007, 130, 1183–1193.
[2]
Simpson, D.M.; Blitzer, A.; Brashear, A.; Comella, C.; Dubinsky, R.; Hallett, M.; Jankovic, J.; Karp, B.; Ludlow, C.L.; Miyasaki, J.M.; et al. Assessment: Botulinum neurotoxin for the treatment of movement disorders (an evidence-based review): Report of the therapeutics and technology assessment subcommittee of the American Academy of Neurology. Neurology 2008, 70, 1699–1706, doi:10.1212/01.wnl.0000311389.26145.95.
[3]
Gowers, W.R. A Manual of Diseases of the Nervous System; P. Blakiston’ Son & Co.: Philadelphia, PA, USA, 1888; pp. 1059–1078.
[4]
Brandfonbrener, A.G.; Robson, C. Review of 113 musicians with focal dystonia seen between 1985 and 2002 at a clinic for performing artists. Adv. Neurol. 2004, 94, 255–256.
[5]
Hallett, M. Neurophysiology of dystonia: The role of inhibition. Neurobiol. Dis. 2011, 42, 177–184, doi:10.1016/j.nbd.2010.08.025.
[6]
Day, B.L.; Marsden, C.D.; Obeso, J.A.; Rothwell, J.C. Reciprocal inhibition between the muscles of the human forearm. J. Physiol. 1984, 349, 519–534.
Rosales, R.L.; Dressler, D. On muscle spindles, dystonia and botulinum toxin. Eur. J. Neurol. 2010, 17, 71–80, doi:10.1111/j.1468-1331.2010.03056.x.
[9]
Koch, G.; Schneider, S.; Baumer, T.; Franca, M.; Munchau, A.; Cheeran, B.; del Olmo, F.M.; Cordivari, C.; Rounis, E.; Caltagirone, C.; et al. Altered dorsal premotor-motor interhemispheric pathway activity in focal arm dystonia. Mov. Disord. 2008, 23, 660–668, doi:10.1002/mds.21881.
[10]
Sohn, Y.H.; Hallett, M. Disturbed surround inhibition in focal hand dystonia. Ann. Neurol. 2004, 56, 595–599.
[11]
Kaji, R.; Rothwell, J.C.; Katayama, M.; Ikeda, T.; Kubori, T.; Kohara, N.; Mezaki, T.; Shibasaki, H.; Kimura, J. Tonic vibration reflex and muscle afferent block in writer’s cramp. Ann. Neurol. 1995, 38, 155–162, doi:10.1002/ana.410380206.
[12]
Weise, D.; Schramm, A.; Stefan, K.; Wolters, A.; Reiners, K.; Naumann, M.; Classen, J. The two sides of associative plasticity in writer’s cramp. Brain 2006, 129, 2709–2721, doi:10.1093/brain/awl221.
[13]
Odergren, T.; Stone-Elander, S.; Ingvar, M. Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer’s cramp. Mov. Disord. 1998, 13, 497–508.
[14]
Pujol, J.; Roset-Llobet, J.; Rosines-Cubells, D.; Deus, J.; Narberhaus, B.; Valls-Sole, J.; Capdevila, A.; Pascual-Leone, A. Brain cortical activation during guitar-induced hand dystonia studied by functional MRI. Neuroimage 2000, 12, 257–267, doi:10.1006/nimg.2000.0615.
[15]
Wu, C.C.; Fairhall, S.L.; McNair, N.A.; Hamm, J.P.; Kirk, I.J.; Cunnington, R.; Anderson, T.; Lim, V.K. Impaired sensorimotor integration in focal hand dystonia patients in the absence of symptoms. J. Neurol. Neurosurg. Psychiatry 2010, 81, 659–665, doi:10.1136/jnnp.2009.185637.
[16]
Havrankova, P.; Walker, N.D.; Operto, G.; Sieger, T.; Vymazal, J.; Jech, R. Cortical pattern of complex but not simple movements is affected in writer’s cramp: A parametric event-related fMRI study. Clin. Neurophysiol. 2012, 123, 755–763.
[17]
Ibanez, V.; Sadato, N.; Karp, B.; Deiber, M.P.; Hallett, M. Deficient activation of the motor cortical network in patients with writer’s cramp. Neurology 1999, 53, 96–105, doi:10.1212/WNL.53.1.96.
Bara-Jimenez, W.; Shelton, P.; Hallett, M. Spatial discrimination is abnormal in focal hand dystonia. Neurology 2000, 55, 1869–1873, doi:10.1212/WNL.55.12.1869.
[20]
Bara-Jimenez, W.; Shelton, P.; Sanger, T.D.; Hallett, M. Sensory discrimination capabilities in patients with focal hand dystonia. Ann. Neurol. 2000, 47, 377–380, doi:10.1002/1531-8249(200003)47:3<377::AID-ANA16>3.0.CO;2-2.
[21]
Delmaire, C.; Vidailhet, M.; Wassermann, D.; Descoteaux, M.; Valabregue, R.; Bourdain, F.; Lenglet, C.; Sangla, S.; Terrier, A.; Deriche, R.; et al. Diffusion abnormalities in the primary sensorimotor pathways in writer’s cramp. Arch. Neurol. 2009, 66, 502–508, doi:10.1001/archneurol.2009.8.
[22]
Tolosa, E.; Kulisevsky, J.; Fahn, S. Meige syndrome: Primary and secondary forms. Adv. Neurol. 1988, 50, 509–515.
[23]
Tan, E.K.; Jankovic, J. Botulinum toxin A in patients with oromandibular dystonia: Long-term follow-up. Neurology 1999, 53, 2102–2107, doi:10.1212/WNL.53.9.2102.
[24]
Marsden, C.D. Blepharospasm-oromandibular dystonia syndrome (Brueghel’s syndrome). A variant of adult-onset torsion dystonia? J. Neurol. Neurosurg. Psychiatry 1976, 39, 1204–1209.
[25]
Bakke, M.; Larsen, B.M.; Dalager, T.; Moller, E. Oromandibular dystonia-functional and clinical characteristics: A report on 21 cases. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. 2012, doi:10.1016/j.oooo.2012.04.023.
[26]
Martino, D.; Defazio, G.; Alessio, G.; Abbruzzese, G.; Girlanda, P.; Tinazzi, M.; Fabbrini, G.; Marinelli, L.; Majorana, G.; Buccafusca, M.; et al. Relationship between eye symptoms and blepharospasm: A multicenter case-control study. Mov. Disord. 2005, 20, 1564–1570, doi:10.1002/mds.20635.
[27]
Defazio, G.; Abbruzzese, G.; Aniello, M.S.; Bloise, M.; Crisci, C.; Eleopra, R.; Fabbrini, G.; Girlanda, P.; Liguori, R.; Macerollo, A.; et al. Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology 2011, 77, 631–637.
[28]
Sankhla, C.; Lai, E.C.; Jankovic, J. Peripherally induced oromandibular dystonia. J. Neurol. Neurosurg. Psychiatry 1998, 65, 722–728, doi:10.1136/jnnp.65.5.722.
[29]
Haslinger, B.; Altenmuller, E.; Castrop, F.; Zimmer, C.; Dresel, C. Sensorimotor overactivity as a pathophysiologic trait of embouchure dystonia. Neurology 2010, 74, 1790–1797, doi:10.1212/WNL.0b013e3181e0f784.
[30]
Mascia, M.M.; Valls-Sole, J.; Marti, M.J.; Sanz, S. Chewing pattern in patients with Meige’s syndrome. Mov. Disord. 2005, 20, 26–33, doi:10.1002/mds.20272.
[31]
Berardelli, A.; Rothwell, J.C.; Day, B.L.; Marsden, C.D. Pathophysiology of blepharospasm and oromandibular dystonia. Brain 1985, 108, 593–608, doi:10.1093/brain/108.3.593.
[32]
Berardelli, A.; Curra, A. Pathophysiology and treatment of cranial dystonia. Mov. Disord. 2002, 17, S70–S74, doi:10.1002/mds.10063.
[33]
Allam, N.; Fonte-Boa, P.M.; Tomaz, C.A.; Brasil-Neto, J.P. Lack of effect of botulinum toxin on cortical excitability in patients with cranial dystonia. Clin. Neuropharmacol. 2005, 28, 1–5.
[34]
Dresel, C.; Haslinger, B.; Castrop, F.; Wohlschlaeger, A.M.; Ceballos-Baumann, A.O. Silent event-related fMRI reveals deficient motor and enhanced somatosensory activation in orofacial dystonia. Brain 2006, 129, 36–46.
[35]
Baker, R.S.; Andersen, A.H.; Morecraft, R.J.; Smith, C.D. A functional magnetic resonance imaging study in patients with benign essential blepharospasm. J. Neuroophthalmol. 2003, 23, 11–15, doi:10.1097/00041327-200303000-00003.
[36]
Bradley, D.; Whelan, R.; Kimmich, O.; O’Riordan, S.; Mulrooney, N.; Brady, P.; Walsh, R.; Reilly, R.B.; Hutchinson, S.; Molloy, F.; et al. Temporal discrimination thresholds in adult-onset primary torsion dystonia: An analysis by task type and by dystonia phenotype. J. Neurol. 2012, 259, 77–82.
[37]
Hirata, Y.; Schulz, M.; Altenmuller, E.; Elbert, T.; Pantev, C. Sensory mapping of lip representation in brass musicians with embouchure dystonia. Neuroreport 2004, 15, 815–818, doi:10.1097/00001756-200404090-00015.
[38]
Dresel, C.; Bayer, F.; Castrop, F.; Rimpau, C.; Zimmer, C.; Haslinger, B. Botulinum toxin modulates basal ganglia but not deficient somatosensory activation in orofacial dystonia. Mov. Disord. 2011, 26, 1496–1502, doi:10.1002/mds.23497.
[39]
Feiwell, R.J.; Black, K.J.; McGee-Minnich, L.A.; Snyder, A.Z.; MacLeod, A.M.; Perlmutter, J.S. Diminished regional cerebral blood flow response to vibration in patients with blepharospasm. Neurology 1999, 52, 291–297, doi:10.1212/WNL.52.2.291.
[40]
Fabbrini, G.; Pantano, P.; Totaro, P.; Calistri, V.; Colosimo, C.; Carmellini, M.; Defazio, G.; Berardelli, A. Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur. J. Neurol. 2008, 15, 185–189, doi:10.1111/j.1468-1331.2007.02034.x.
[41]
Frueh, B.R.; Felt, D.P.; Wojno, T.H.; Musch, D.C. Treatment of blepharospasm with botulinum toxin. A preliminary report. Arch. Ophthalmol. 1984, 102, 1464–1468, doi:10.1001/archopht.1984.01040031184014.
[42]
Tsoy, E.A.; Buckley, E.G.; Dutton, J.J. Treatment of blepharospasm with botulinum toxin. Am. J. Ophthalmol. 1985, 99, 176–179.
[43]
Karp, B.I. Botulinum toxin treatment of occupational and focal hand dystonia. Mov. Disord. 2004, 19, S116–S119, doi:10.1002/mds.20025.
[44]
Cillino, S.; Raimondi, G.; Guepratte, N.; Damiani, S.; Cillino, M.; di Pace, F.; Casuccio, A. Long-term efficacy of botulinum toxin A for treatment of blepharospasm, hemifacial spasm, and spastic entropion: A multicentre study using two drug-dose escalation indexes. Eye 2010, 24, 600–607, doi:10.1038/eye.2009.192.
[45]
Costa, J.; Espirito-Santo, C.; Borges, A.; Ferreira, J.J.; Coelho, M.; Moore, P.; Sampaio, C. Botulinum toxin type A therapy for blepharospasm. Cochrane Database Syst. Rev. 2005, doi:10.1002/14651858.CD004900.pub2.
[46]
Bhidayasiri, R.; Cardoso, F.; Truong, D.D. Botulinum toxin in blepharospasm and oromandibular dystonia: Comparing different botulinum toxin preparations. Eur. J. Neurol. 2006, 13, 21–29.
[47]
Colosimo, C.; Tiple, D.; Berardelli, A. Efficacy and safety of long-term botulinum toxin treatment in craniocervical dystonia: A systematic review. Neurotox. Res. 2012, 22, 265–273, doi:10.1007/s12640-012-9314-y.
[48]
Lungu, C.; Karp, B.I.; Alter, K.; Zolbrod, R.; Hallett, M. Long-term follow-up of botulinum toxin therapy for focal hand dystonia: Outcome at 10 years or more. Mov. Disord. 2011, 26, 750–753, doi:10.1002/mds.23504.
[49]
Dressler, D. Botulinum toxin for treatment of dystonia. Eur. J. Neurol. 2010, 17, 88–96, doi:10.1111/j.1468-1331.2010.03058.x.
[50]
Lawrence, G.W.; Ovsepian, S.V.; Wang, J.; Aoki, K.R.; Dolly, J.O. Extravesicular intraneuronal migration of internalized botulinum neurotoxins without detectable inhibition of distal neurotransmission. Biochem. J. 2012, 441, 443–452, doi:10.1042/BJ20111117.
[51]
Matak, I.; Riederer, P.; Lackovic, Z. Botulinum toxin’s axonal transport from periphery to the spinal cord. Neurochem. Int. 2012, 61, 236–239, doi:10.1016/j.neuint.2012.05.001.
[52]
Dressler, D.; adib Saberi, F. Botulinum toxin: Mechanisms of action. Eur. Neurol. 2005, 53, 3–9, doi:10.1159/000083259.
[53]
Trompetto, C.; Curra, A.; Buccolieri, A.; Suppa, A.; Abbruzzese, G.; Berardelli, A. Botulinum toxin changes intrafusal feedback in dystonia: A study with the tonic vibration reflex. Mov. Disord. 2006, 21, 777–782, doi:10.1002/mds.20801.
[54]
Abbruzzese, G.; Berardelli, A. Neurophysiological effects of botulinum toxin type A. Neurotox. Res. 2006, 9, 109–114, doi:10.1007/BF03033927.
[55]
Priori, A.; Berardelli, A.; Mercuri, B.; Manfredi, M. Physiological effects produced by botulinum toxin treatment of upper limb dystonia: Changes in reciprocal inhibition between forearm muscles. Brain 1995, 118, 801–807, doi:10.1093/brain/118.3.801.
[56]
Naumann, M.; Reiners, K. Long-latency reflexes of hand muscles in idiopathic focal dystonia and their modification by botulinum toxin. Brain 1997, 120, 109–416.
[57]
Byrnes, M.L.; Thickbroom, G.W.; Wilson, S.A.; Sacco, P.; Shipman, J.M.; Stell, R.; Mastaglia, F.L. The corticomotor representation of upper limb muscles in writer’s cramp and changes following botulinum toxin injection. Brain 1998, 121, 977–988, doi:10.1093/brain/121.5.977.
[58]
Gilio, F.; Curra, A.; Lorenzano, C.; Modugno, N.; Manfredi, M.; Berardelli, A. Effects of botulinum toxin type A on intracortical inhibition in patients with dystonia. Ann. Neurol. 2000, 48, 20–26, doi:10.1002/1531-8249(200007)48:1<20::AID-ANA5>3.0.CO;2-U.
[59]
Boroojerdi, B.; Cohen, L.G.; Hallett, M. Effects of botulinum toxin on motor system exciatbility in patients with writer’s cramp. Neurology 2003, 61, 1543–1550.
[60]
Ridding, M.C.; Sheean, G.; Rothwell, J.C.; Inzelberg, R.; Kujirai, T. Changes in the balance between motor cortical excitation and inhibition in focal, task specific dystonia. J. Neurol. Neurosurg. Psychiatry 1995, 59, 493–498, doi:10.1136/jnnp.59.5.493.
[61]
Ceballos-Baumann, A.O.; Brooks, D.J. Basal ganglia function and dysfunction revealed by PET activation studies. Adv. Neurol. 1997, 74, 127–139.
[62]
Kojovic, M.; Caronni, A.; Bologna, M.; Rothwell, J.C.; Bhatia, K.P.; Edwards, M.J. Botulinum toxin injections reduce associative plasticity in patients with primary dystonia. Mov. Disord. 2011, 26, 1282–1289, doi:10.1002/mds.23681.
[63]
Blood, A.J.; Tuch, D.S.; Makris, N.; Makhlouf, M.L.; Sudarsky, L.R.; Sharma, N. White matter abnormalities in dystonia normalize after botulinum toxin treatment. Neuroreport 2006, 17, 1251–1255, doi:10.1097/01.wnr.0000230500.03330.01.
[64]
Valls-Sole, J.; Tolosa, E.; Ribera, G. Neurophysiological observations on the effects of botulinum toxin treatment in patients with dystonic blepharospasm. J. Neurol. Neurosurg. Psychiatr 1991, 54, 310–313, doi:10.1136/jnnp.54.4.310.
[65]
Conte, A.; Fabbrini, G.; Belvisi, D.; Marsili, L.; di Stasio, F.; Berardelli, A. Electrical activation of the orbicularis oculi muscle does not increase the effectiveness of botulinum toxin type A in patients with blepharospasm. Eur. J. Neurol. 2010, 17, 449–455, doi:10.1111/j.1468-1331.2009.02840.x.
[66]
Quartarone, A.; Sant’Angelo, A.; Battaglia, F.; Bagnato, S.; Rizzo, V.; Morgante, F.; Rothwell, J.C.; Siebner, H.R.; Girlanda, P. Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. J. Neurosci. 2006, 26, 716–721, doi:10.1523/JNEUROSCI.3948-05.2006.
[67]
Zeuner, K.E.; Knutzen, A.; Al-Ali, A.; Hallett, M.; Deuschl, G.; Bergmann, T.O.; Siebner, H.R. Associative stimulation of the supraorbital nerve fails to induce timing-specific plasticity in the human blink reflex. PLoS One 2010, 5, e13602.
