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dystonia

Involuntary, sustained or intermittent slow muscle contractions of opposing muscles resulting in repetitive movements or abnormal posture. [6] Etiology: 1) phenothiazines (dopamine receptor antagonists) - acute dystonic reaction - tardive dystonia 2) dopa-responsive dystonia - damage to the basal ganglia - post traumatic, occupational - anoxia, hypoxia - dopamine receptor antagonists: neuroleptics, metoclopramide [9] 3) secondary dystonias [9] - Wilson's disease - Huntington's disease - Hallervorden-Spatz disease (pantothenic kinase-associated neurodegeneration) - Leigh disease - lipid storage disease - parkinsonism - CNS infections - encephalitis, postencephalitic dystonia - brain tumors 4) focal dystonia - cervical dystonia commonly affects women - torticollis is the most common focal dystonia - blepharospasm is the second most common focal dystonia - cranial dystonia affects muscles of the head face & neck - Meige syndrome is cranial dystonia + blepharospams [6,9] - oromandibular dystonia affects the muscles of the jaw, lips, & tongue - particular repetitive activities including writer's cramp 5) dystonia musculorum deformans 6) laryngeal dystonia 7) idiopathic Epidemiology: - more common in younger patients (drug-induced) Genetics: 1) autosomal dominant inheritance 2) DYT-1 gene with GAG deletion Clinical manifestations: 1) generally begins within 48 hours of administering offending agent (drug-induced) 2) involuntary movements, sustained or intermittent, slow, repetitive, directional 3) twisting & posturing without lapse in muscle tone 4) postures assumed are often bizarre with forceful extensions & twisting about individual joints 5) may be generalized or focal 6) examples: a) torticollis b) blepharospasm c) oculogyric crisis (deviation & upward fixation of eyes) Laboratory: - serum ceruloplasmin & 24 hour urine copper (for Wilson disease) [6] Differential diagnosis: - tardive dystonia - fixed posturing of the face & neck (anterocollis, retrocollis, torticollis), extremities, & trunk - focal or generalized - torsion dystonia - twisting & sustained contractions of muscles resulting in rapid, repetitive, distressing movements - generally begins with inversion of foot & spasm of the proximal limb muscles, with gait ataxia - scoliosis, torticollis, & tortipelvis may occur [9] Management: 1) treatment of generalized dystonia is generally unsatisfactory a) high doses of anticholinergics 1] benztropine 2 mg IV 2] diphenhydramine (Benadryl) 50 mg IV b) benzodiazepines c) baclofen delivered intrathecally via implanted pump especially if coexistent spasticity [9] d) anticonvulsants 2) drug-inducted dystonia - valbenazine, deutetrabenazine, tetrabenazine, amantadine, clonazepam [6] 2) focal dystonias - local injection of botulinum A toxin (Botox) is treatment of choice [6] 3) L-dopa/carbidopa (L-dopa responsive dystonia) 4) response to deep brain stimulation (DBS) a) stimulation of globus pallidus b) battery lasts only 2 years (2006) due to high level of stimulation required

Related

dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1

Specific

dystonia juvenile-onset dystonia type 16 dystonia-12 (rapid-onset dystonia parkinsonism) dystonia-5; autosomal-dominant dopa-responsive dystonia; progressive dystonia with diurnal fluctuation; autosomal dominant Segawa syndrome; dystonia-parkinsonism with diurnal fluctuation (DYT5) L dopa-responsive dystonia myoclonic dystonia; alcohol-responsive dystonia; dystonia-11 orofacial dystonia; orofacial dyskinesia; Meige's syndrome; Brueghel's syndrome primary cranial dystonia; idiopathic tosional dystonia spasmodic dysphonia (laryngeal dystonia) tardive dystonia torsion dystonia torsion dystonia 1 (primary or idiopathic dystonia) torticollis; loxia; collum distortum; wryneck; cervical dystonia; spasmodic retrocollis trismus; ankylostoma; lockjaw writer's cramp; mogigraphia; hand dystonia; Scrivener's palsy X-linked torsion dystonia

General

movement disorder sign/symptom

Database Correlations

OMIM correlations

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Companion Handbook, Isselbacher et al (eds), McGraw-Hill Inc. NY, 1995, pg 39
  2. Harrison's Online, McGraw-Hill, 2002
  3. Geriatrics Review Syllabus, American Geriatrics Society, 5th edition, 2002-2004
  4. Bronstein J, In: Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 29-Oct 2, 2004
  5. Kupsch A et al for the Deep-Brain Stimulation for Dystonia Study Group. Pallidal deep-brain stimulation in primary generalized or segmental dystonia, N Engl J Med 2006, 355:1978 PMID: 17093249
  6. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2021. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  7. Tarsy D, Simon DK. Dystonia. N Engl J Med. 2006 Aug 24;355(8):818-29. PMID: 16928997
  8. Robottom BJ, Weiner WJ, Comella CL. Early-onset primary dystonia. Handb Clin Neurol. 2011;100:465-79 PMID: 21496603
  9. Lutsep HL Fast Five Quiz: Movement Disorders. Medscape 2021. July 8 https://reference.medscape.com/viewarticle/954124
  10. Moberg-Wolff EA, Kishner S. Dystonias Medscape. Aug 5, 2020 https://emedicine.medscape.com/article/312648-overview
  11. The Dystonias Fact Sheet https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Dystonias-Fact-Sheet
  12. NINDS Dystonias Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Dystonias-Information-Page