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As many as 250,000 people in the United States have dystonia, making it the third most common movement disorder following essential tremor and Parkinson's disease. This authoritative reader-friendly resource provides a wide-ranging overview of the latest research and developments regarding the pathogenesis, evaluation, and management of the disease. Providing detailed coverage of every available treatment option for dystonia including four categorized sections on medical management, botulinum toxin injections, phenol or neurolytic therapy, and surgical intervention, this source summarizes what is known about the disorder and dramatically improves the recognition and understanding of this debilitating disease.

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• Preface(p. v)
• Contributors(p. xv)
• Section I Epidemiology and Pathogenesis
• 1 Introduction to Dystonia(p. 1)
• References(p. 7)
• 2 Epidemiology of Primary and Secondary Dystonia(p. 11)
• Introduction(p. 11)
• Epidemiology of Primary Dystonia(p. 11)
• Epidemiology of Secondary Dystonia(p. 16)
• Conclusions(p. 17)
• References(p. 18)
• 3 Genetic Evaluation in Primary Dystonia(p. 21)
• Introduction(p. 21)
• DYT1 Dystonia (Dystonia Musculorum Deformans, Oppenheim's Dystonia, and Early Onset Generalized Dystonia)(p. 27)
• DYT5 Dystonia (Dopa-Responsive Dystonia; Segawa Syndrome)(p. 29)
• DYT11 (and DYT15) Myoclonus-Dystonia(p. 30)
• Other Hereditary Dystonias(p. 33)
• Other DYT Genes(p. 35)
• References(p. 37)
• 4 Functional Anatomy of the Basal Ganglia(p. 45)
• Introduction(p. 45)
• Basal Ganglia Inputs(p. 45)
• Basal Ganglia Outputs(p. 48)
• Intrinsic Basal Ganglia Nuclei(p. 49)
• Functional Organization(p. 49)
• Focused Facilitation and Surround Inhibition of Competing Motor Patterns(p. 50)
• Relationship of Basal Ganglia Organization to Dystonia(p. 52)
• Summary(p. 53)
• References(p. 54)
• 5 Physiology of Primary Dystonia(p. 57)
• Introduction(p. 57)
• Loss of Inhibition(p. 57)
• Sensory Changes(p. 59)
• Plasticity(p. 61)
• Conclusions(p. 61)
• Preferences(p. 61)
• 6 Pathology of the Dystonias(p. 65)
• Introduction(p. 65)
• Pathology of Primary Dystonia; DYT1 Dystonia(p. 67)
• Pathology of Dystonia-Plus Syndromes and Secondary Dystonia(p. 69)
• Conclusions(p. 86)
• References(p. 86)
• 7 Neuroimaging in Dystonia(p. 93)
• Introduction(p. 93)
• Secondary Dystonias(p. 93)
• The Dopamine System in Dystonia(p. 96)
• Imaging Studies in DYT1 Dystonia(p. 98)
• Imaging Studies in Focal Dystonia(p. 100)
• Conclusion(p. 101)
• References(p. 102)
• Section II Signs and Symptoms
• 8 Primary Generalized Dystonia(p. 107)
• Introduction(p. 107)
• Clinical Presentation(p. 108)
• Differential Diagnosis(p. 110)
• Diagnostic Approach(p. 114)
• Management(p. 114)
• References(p. 117)
• 9 Cranial Dystonia(p. 121)
• Historical Note Nomenclature(p. 121)
• Epidemiology(p. 121)
• Clinical Manifestations(p. 122)
• Etiology(p. 123)
• Physiology and Pathology(p. 124)
• Differential Diagnosis(p. 127)
• Prognosis and Complications(p. 129)
• Management(p. 129)
• Selection of Muscles for Oromandibular Dystonias(p. 131)
• References(p. 132)
• 10 Cervical Dystonia(p. 137)
• Definition(p. 137)
• Background(p. 137)
• Epidemiology(p. 137)
• Pathophysiology(p. 138)
• Hypotheses Underlying Potential Causes of Cervical Dystonia(p. 140)
• Clinical Manifestation(p. 141)
• Management(p. 142)
• Prognosis(p. 147)
• Summary(p. 148)
• References(p. 148)
• 11 Limb Dystonia(p. 155)
• Introduction(p. 155)
• Focal Hand Dystonia(p. 155)
• Segmental Dystonia(p. 163)
• Leg and Foot Dystonia(p. 163)
• Evaluation of Limb Dystonia(p. 164)
• Treatment(p. 167)
• Summary(p. 171)
• References(p. 171)
• 12 Spasmodic Dysphonia(p. 179)
• Introduction(p. 179)
• History and Background(p. 179)
• Epidemiology(p. 180)
• Diagnosis(p. 181)
• Treatments(p. 182)
• Conclusions(p. 186)
• References(p. 187)
• 13 Embouchure and Other Task-Specific Musician's Dystonias(p. 189)
• Introduction(p. 189)
• Historical Background(p. 190)
• Epidemiology(p. 192)
• Clinical Features(p. 194)
• Diagnosis(p. 197)
• Predisposing Factors and Triggers(p. 198)
• Long-Term Course and Prognosis(p. 199)
• Pathophysiology and Mechanisms(p. 200)
• Treatment(p. 202)
• Conclusions(p. 206)
• References(p. 206)
• 14 Sports-Related Task-Specific Dystonia: The Yips(p. 209)
• Introduction(p. 209)
• Golfer's Cramp: Yips(p. 209)
• Neurologic Study of the Yips(p. 210)
• Other Sport-Related Dystonias(p. 214)
• Summary(p. 216)
• References(p. 216)
• 15 Dopa-Responsive Dystonia(p. 219)
• Introduction(p. 219)
• Autosomal-Dominant Guanosine 5'-Triphosphate (GTP) Cyclohydrolase I (AD GCH-I) Deficiency (Segawa Disease): Dominant-Type DYT5(p. 219)
• Recessive Disturbance of Pteridine Metabolism(p. 229)
• Recessive Tyrosine Hydroxylase Deficiency(p. 232)
• DYT14(p. 234)
• Juvenile Parkinsonism, Parkinsonism-Dystonia Complex(p. 234)
• Summary(p. 235)
• References(p. 236)
• 16 Secondary Dystonia(p. 245)
• Introduction(p. 245)
• Clinical Features(p. 247)
• Laboratory Investigations(p. 247)
• Neuroimaging(p. 249)
• Etiology of Secondary Dystonia(p. 250)
• Treatment(p. 260)
• References(p. 260)
• 17 Drug-Induced Dystonia(p. 267)
• Introduction(p. 267)
• Acute Dystonic Reaction(p. 267)
• Tardive Dystonia(p. 268)
• References(p. 273)
• 18 Psychogenic Dystonia(p. 277)
• Introduction(p. 277)
• Epidemiology(p. 278)
• Diagnosis(p. 278)
• Course of Illness(p. 283)
• Management(p. 284)
• Posttraumatic Dystonia(p. 284)
• Conclusion(p. 285)
• References(p. 286)
• 19 Nonmotor Symptoms in Dystonia(p. 289)
• Introduction(p. 289)
• Neuropsychological and Psychiatric Changes(p. 289)
• Sleep Disorders(p. 292)
• Pain(p. 293)
• Sensory Tricks(p. 294)
• Conclusion(p. 297)
• References(p. 298)
• Section III Treatment Options
• 20 Medical Therapy for Dystonia(p. 301)
• Introduction(p. 301)
• Dopaminergic Therapy(p. 302)
• Conclusion(p. 310)
• References(p. 311)
• 21 Anatomic Principles for Botulinum Toxin Injection(p. 317)
• Overview of Anatomic Localization(p. 317)
• The Importance of Accuracy(p. 318)
• Electrophysiologic Guidance(p. 319)
• Specific Guide for Injections(p. 323)
• Conclusion(p. 340)
• References(p. 340)
• 22 Botulinum Toxin: From Molecule to Clinic(p. 343)
• Introduction(p. 343)
• The Clostridial Neurotoxins(p. 343)
• Cellular Uptake and Specificity(p. 346)
• Cytosolic Translocation(p. 346)
• Proteolytic Cleavage of Neuronal SNAREs(p. 346)
• Longevity of Paralytic Activity(p. 348)
• Mechanisms of Resistance(p. 349)
• Designing the Next Generation of Toxins(p. 350)
• Conclusion(p. 351)
• References(p. 351)
• 23 Botulinum Toxins in the Treatment of Dystonia(p. 355)
• Introduction(p. 355)
• Botulinum Toxin A(p. 355)
• Botulinum Toxin B(p. 359)
• Toxin Dosage Selection(p. 360)
• Side Effects and Safety(p. 361)
• Antibody Formation(p. 362)
• Comparison Trials(p. 363)
• Conclusion(p. 366)
• References(p. 367)
• 24 Phenol Injections in Dystonia(p. 371)
• Introduction(p. 371)
• Historical Background in the Therapeutic Use of Phenol(p. 371)
• Properties/Preparation of Phenol(p. 372)
• Mechanism of Action and Pathological Studies(p. 373)
• Clinical Application of Phenol in Dystonia(p. 374)
• Technique(p. 376)
• Results and Duration of Benefit(p. 377)
• Adverse Reactions(p. 378)
• Conclusions(p. 378)
• References(p. 379)
• 25 Selective Denervation in Cervical Dystonia(p. 381)
• Historical Perspective(p. 381)
• Selective Peripheral Denervation (The Bertrand Procedure)(p. 382)
• Candidates for Selective Denervation(p. 383)
• Factors that Affect the Success of Selective Denervation(p. 384)
• Surgical Procedure(p. 388)
• Results(p. 389)
• Summary(p. 390)
• References(p. 391)
• 26 Brain Surgery for Dystonia(p. 393)
• Introduction(p. 393)
• Ablative Procedures for Dystonia(p. 394)
• Deep Brain Stimulation for Dystonia(p. 395)
• Dystonia Patient Candidacy for Surgical Treatment(p. 400)
• Conclusions(p. 401)
• References(p. 401)
• Index(p. 407)