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3.1.3 PHARMACOLOGICAL TREATMENT FOR DYSTONIA
Parkinsonism and Related Disorders 18S2 (2012) S161–S234
Contents lists available at ScienceDirect
Parkinsonism and Related Disorders journal homepage: www.elsevier.com/locate/parkreldis
Wednesday, 14 December 2011
Invited Lectures Parallel Session Dystonia Chairperson: Dirk Dressler, Germany
08:30–10:00
have also been described in subjects with secondary dystonia. Another important sensory aspect of dystonia is pain which is relatively common in cervical dystonia but also reported by many patients with masticatory dystonia, hand-forearm dystonia and blepharospasm. In conclusion, “dystonia” can be used to delimit a clinical sign or loosely define a neuropsychiatric sensorimotor syndrome.
3.1.1 OVERVIEW OF PRIMARY MONOGENIC DYSTONIA M. Spatola, C. Wider. Department of Clinical Neuroscience, University of Lausanne, Lausanne, Switzerland
3.1.3 PHARMACOLOGICAL TREATMENT FOR DYSTONIA Y. Baba. Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan
Primary monogenic forms of dystonia manifest solely or mainly with dystonia. They have been linked to a number of genes and loci and assigned “DYT” numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantlyinherited generalized dystonia, sometimes with focal onset. DYT1 is caused by a GAG deletion in the TOR1A gene. Mutations in the THAP1 gene cause DYT6, a form of pure dystonia that primarily involves cranio-cervical and upper limb muscles. Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). Other forms of dystonia plus include myoclonic dystonia (DYT11) and dystonia-parkinsonism (DYT12). Finally, paroxysmal exertion-induced dystonia (DYT18, GLUT1 deficiency) is caused by mutations in the SLC2A1 gene (DYT9 and DYT18). It is part of the paroxysmal dystonia group and manifests with paroxystic movements sometimes associated with seizures and psychomotor developmental delay.
Dystonia is a hyperkinetic movement disorder characterized by sustained muscle contractions usually producing twisting and repetitive movements or abnormal postures. The treatment of dystonia is only symptomatic, and curative therapies are not available. The goal of the treatment is improve function with relief of involuntary movements and abnormal posture. Pharmacological treatment options include oral medications and chemodenervation. The efficacy and tolerability of oral medications, such as anticholinergic and antidopaminergic drugs, have not been extensively evaluated in control trials. Many drugs have been documented to be of some benefit in a number of patients with dystonia. Among the oral medications, anticholinergic drugs show efficacy in treatment of generalized and segmental dystonia. Dopaminergic agents are dramatically beneficial in dopa-responsive dystonia that usually presents itself during childhood and where there is a family history of dystonia or Parkinson’s disease. Chemodenervation with botulinum toxin injection has become a potent therapeutic tool for several types of dystonia. Botulinum toxin injection is offered as a treatment option for focal dystonia, including cervical, oromandibular and task specific dystonia, and blepharospasm. Pharmacological treatment should be tailored to the type of dystonia in individual patients.
3.1.2 DYSTONIA: PHENOMENOLOGY M.S. LeDoux. Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonias are typically mobile and may show task specificity. Fixed dystonias are often psychogenic or associated with complex regional pain syndrome. Fixed dystonia may also be the terminal consequence of long-standing, inadequately-treated, severe appendicular or cervical dystonia. The vast majority of primary dystonias have their onset in adults. Late-onset, primary, focal dystonia, particularly blepharospasm, may spread to affect other anatomical segments. Patients with focal dystonia may also exhibit spontaneous remissions that last for years. Although sensory tricks are commonly reported by patients with primary dystonia, they 1353-8020/$ – see front matter © 2011 Elsevier Ltd. All rights reserved.
3.1.4 SUBTHALAMIC NUCLEUS STIMULATION FOR PRIMARY DYSTONIA AND TARDIVE DYSKINESIA: LONG-TERM FOLLOW UP RESULTS B. Sun1 , D. Li1 , S. Zhan1 , J. Zhang2 . 1 Functional Neurosurgery, 2 Neurology, Shanghai Jiaotong University Rui Jin Hospital, Shanghai, China Introduction: Preliminary studies of Deep Brain Stimulation (DBS) of Globus Pallidus have shown promising effect for primary dystonia and tardive dyskinesia. Since 2002, we used Subthalamic Neucleus stimulation for primary dystonia and tardive dystonia. Present report the result of long term follow up and advantages of STN DBS for primary dystonia and tardive dystonia. Methods: Sixty-five patients with primary dystonia and two patients with anti-psychiatric medication induced generalized dystonia (tardive dyskinesia) had bilateral electrodes placed in STN by MRI guided stereotactic surgery. The clinical symptoms of patients were documented by video tape and BFMDS at preoperation and post-operation respectively to evaluated the effects of stimulation. Patients have been followed up from 6–105 months
Contents lists available at ScienceDirect
Parkinsonism and Related Disorders journal homepage: www.elsevier.com/locate/parkreldis
Wednesday, 14 December 2011
Invited Lectures Parallel Session Dystonia Chairperson: Dirk Dressler, Germany
08:30–10:00
have also been described in subjects with secondary dystonia. Another important sensory aspect of dystonia is pain which is relatively common in cervical dystonia but also reported by many patients with masticatory dystonia, hand-forearm dystonia and blepharospasm. In conclusion, “dystonia” can be used to delimit a clinical sign or loosely define a neuropsychiatric sensorimotor syndrome.
3.1.1 OVERVIEW OF PRIMARY MONOGENIC DYSTONIA M. Spatola, C. Wider. Department of Clinical Neuroscience, University of Lausanne, Lausanne, Switzerland
3.1.3 PHARMACOLOGICAL TREATMENT FOR DYSTONIA Y. Baba. Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan
Primary monogenic forms of dystonia manifest solely or mainly with dystonia. They have been linked to a number of genes and loci and assigned “DYT” numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantlyinherited generalized dystonia, sometimes with focal onset. DYT1 is caused by a GAG deletion in the TOR1A gene. Mutations in the THAP1 gene cause DYT6, a form of pure dystonia that primarily involves cranio-cervical and upper limb muscles. Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). Other forms of dystonia plus include myoclonic dystonia (DYT11) and dystonia-parkinsonism (DYT12). Finally, paroxysmal exertion-induced dystonia (DYT18, GLUT1 deficiency) is caused by mutations in the SLC2A1 gene (DYT9 and DYT18). It is part of the paroxysmal dystonia group and manifests with paroxystic movements sometimes associated with seizures and psychomotor developmental delay.
Dystonia is a hyperkinetic movement disorder characterized by sustained muscle contractions usually producing twisting and repetitive movements or abnormal postures. The treatment of dystonia is only symptomatic, and curative therapies are not available. The goal of the treatment is improve function with relief of involuntary movements and abnormal posture. Pharmacological treatment options include oral medications and chemodenervation. The efficacy and tolerability of oral medications, such as anticholinergic and antidopaminergic drugs, have not been extensively evaluated in control trials. Many drugs have been documented to be of some benefit in a number of patients with dystonia. Among the oral medications, anticholinergic drugs show efficacy in treatment of generalized and segmental dystonia. Dopaminergic agents are dramatically beneficial in dopa-responsive dystonia that usually presents itself during childhood and where there is a family history of dystonia or Parkinson’s disease. Chemodenervation with botulinum toxin injection has become a potent therapeutic tool for several types of dystonia. Botulinum toxin injection is offered as a treatment option for focal dystonia, including cervical, oromandibular and task specific dystonia, and blepharospasm. Pharmacological treatment should be tailored to the type of dystonia in individual patients.
3.1.2 DYSTONIA: PHENOMENOLOGY M.S. LeDoux. Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonias are typically mobile and may show task specificity. Fixed dystonias are often psychogenic or associated with complex regional pain syndrome. Fixed dystonia may also be the terminal consequence of long-standing, inadequately-treated, severe appendicular or cervical dystonia. The vast majority of primary dystonias have their onset in adults. Late-onset, primary, focal dystonia, particularly blepharospasm, may spread to affect other anatomical segments. Patients with focal dystonia may also exhibit spontaneous remissions that last for years. Although sensory tricks are commonly reported by patients with primary dystonia, they 1353-8020/$ – see front matter © 2011 Elsevier Ltd. All rights reserved.
3.1.4 SUBTHALAMIC NUCLEUS STIMULATION FOR PRIMARY DYSTONIA AND TARDIVE DYSKINESIA: LONG-TERM FOLLOW UP RESULTS B. Sun1 , D. Li1 , S. Zhan1 , J. Zhang2 . 1 Functional Neurosurgery, 2 Neurology, Shanghai Jiaotong University Rui Jin Hospital, Shanghai, China Introduction: Preliminary studies of Deep Brain Stimulation (DBS) of Globus Pallidus have shown promising effect for primary dystonia and tardive dyskinesia. Since 2002, we used Subthalamic Neucleus stimulation for primary dystonia and tardive dystonia. Present report the result of long term follow up and advantages of STN DBS for primary dystonia and tardive dystonia. Methods: Sixty-five patients with primary dystonia and two patients with anti-psychiatric medication induced generalized dystonia (tardive dyskinesia) had bilateral electrodes placed in STN by MRI guided stereotactic surgery. The clinical symptoms of patients were documented by video tape and BFMDS at preoperation and post-operation respectively to evaluated the effects of stimulation. Patients have been followed up from 6–105 months