dystonia
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Introduction
Involuntary, sustained or intermittent slow muscle contractions of opposing muscles resulting in repetitive movements or abnormal posture.[6]
Etiology
- phenothiazines (dopamine receptor antagonists)
- acute dystonic reaction
- tardive dystonia
- dopa-responsive dystonia
- damage to the basal ganglia
- post traumatic, occupational
- anoxia, hypoxia
- dopamine receptor antagonists: neuroleptics, metoclopramide[9]
- damage to the basal ganglia
- 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
- 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
- oromandibular dystonia affects the muscles of the jaw, lips, & tongue
- particular repetitive activities including writer's cramp
- cervical dystonia commonly affects women
- dystonia musculorum deformans
- laryngeal dystonia
- idiopathic
Epidemiology
- more common in younger patients (drug-induced)
Genetics
- autosomal dominant inheritance
- DYT-1 gene with GAG deletion
Clinical manifestations
- generally begins within 48 hours of administering offending agent (drug-induced)
- involuntary movements, sustained or intermittent, slow, repetitive, directional
- twisting & posturing without lapse in muscle tone
- postures assumed are often bizarre with forceful extensions & twisting about individual joints
- may be generalized or focal
- examples:
- torticollis
- blepharospasm
- oculogyric crisis (deviation & upward fixation of eyes)
Laboratory
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
- treatment of generalized dystonia is generally unsatisfactory
- high doses of anticholinergics
- benztropine 2 mg IV
- diphenhydramine (Benadryl) 50 mg IV
- benzodiazepines
- baclofen delivered intrathecally via implanted pump especially if coexistent spasticity[9]
- anticonvulsants
- high doses of anticholinergics
- drug-inducted dystonia
- focal dystonias
- local injection of botulinum A toxin (Botox) is treatment of choice[6]
- L-dopa/carbidopa (L-dopa responsive dystonia)
- response to deep brain stimulation (DBS)
- stimulation of globus pallidus
- battery lasts only 2 years (2006) due to high level of stimulation required
More general terms
More specific terms
- 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
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Companion Handbook, Isselbacher et al (eds), McGraw-Hill Inc. NY, 1995, pg 39
- ↑ Harrison's Online, McGraw-Hill, 2002
- ↑ Geriatrics Review Syllabus, American Geriatrics Society, 5th edition, 2002-2004
- ↑ Bronstein J, In: Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 29-Oct 2, 2004
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/17093249
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 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 - ↑ Tarsy D, Simon DK. Dystonia. N Engl J Med. 2006 Aug 24;355(8):818-29. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16928997
- ↑ Robottom BJ, Weiner WJ, Comella CL. Early-onset primary dystonia. Handb Clin Neurol. 2011;100:465-79 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21496603
- ↑ 9.0 9.1 9.2 9.3 9.4 9.5 Lutsep HL Fast Five Quiz: Movement Disorders. Medscape 2021. July 8 https://reference.medscape.com/viewarticle/954124
- ↑ Moberg-Wolff EA, Kishner S. Dystonias Medscape. Aug 5, 2020 https://emedicine.medscape.com/article/312648-overview
- ↑ The Dystonias Fact Sheet https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Dystonias-Fact-Sheet
- ↑ NINDS Dystonias Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Dystonias-Information-Page