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3 results

  • Chapter 36 - Primary Dystonia

  • from Section 3: - Hyperkinetic Movement Disorders
  • Edited by Erik Ch. Wolters, Universität Zürich, Christian R. Baumann, Universität Zürich
  • Book:
    International Compendium of Movement Disorders
    Published online:
    07 January 2025
    Print publication:
    06 February 2025, pp 431-444

  • Summary

    Dystonia, defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both, results in patterned, twisted, and sometimes tremulous movements. When dystonia is the sole manifestation, it is known as primary dystonia. Primary dystonia is an uncommon disorder and includes genetic forms of dystonia as well as idiopathic dystonia. Dystonia can involve one body part, when it is called focal; more than one contiguous body part, when it is known as segmental; or involving the trunk and more than two body parts, when it is called generalized. This chapter reviews primary dystonia: the epidemiology, the current theories of pathophysiology, the clinical description, and available treatments of genetic as well as the various forms of focal dystonia, including blepharospasm, oromandibular dystonia, laryngeal dystonia, cervical dystonia, focal hand dystonia and truncal dystonia.

  • A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism

  • Aida Ghasemi, Mahdieh Eslami Ardakani, Mansoureh Togha, Narges Yazdi, Anthony E. Lang, Elahe Amini, Mohammad Rohani, Afagh Alavi
  • Journal:
    Canadian Journal of Neurological Sciences / Volume 52 / Issue 1 / January 2025
    Published online by Cambridge University Press:
    27 March 2024, pp. 110-118
    • Article
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  • Background:

    Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function.

    Objectives and Methods:

    Here, we report a family of four Iranian siblings with cognitive decline, progressive visual and pyramidal disturbances, and abnormal movements manifested by severe oromandibular dystonia and parkinsonism. MRI scans of the brain demonstrated signal abnormalities in the white matter and thinning of the corpus callosum.

    Results and Conclusions:

    Whole-exome sequencing identified a novel homozygous variant, c.362C > T:p. Thr121Met in the MCOLN1 gene consistent with a diagnosis of MLIV. The presentation of MLIV may overlap with a variety of other neurological diseases, and genetic analysis is an important strategy to clarify the diagnosis. This is an important point that clinicians should be familiar with. The novel variant c.362C > T:p. Thr121Met herein described may be related to a comparatively older age at onset. Our study also expands the clinical spectrum of MLIV associated with the MCOLN1 variants and introduces a novel likely pathogenic variant for testing in MLIV cases that remain unresolved.

  • Chapter 10 - Botulinum Neurotoxin in Oromandibular Dystonia

  • Edited by Daniel Truong, University of California, Riverside, Dirk Dressler, Hannover Medical School, Mark Hallett, National Institutes of Health (NIH), Christopher Zachary, University of California, Irvine, Mayank Pathak, Truong Neuroscience Institute
  • Book:
    Manual of Botulinum Toxin Therapy
    Published online:
    02 November 2023
    Print publication:
    23 November 2023, pp 73-81

  • Summary

    Oromandibular dystonia (OMD) is a form of focal dystonia that involves the masticatory, lower facial, labial and lingual musculature affected by the trigeminal, facial and hypoglossal cranial nerves. OMD can be classified into various subtypes, which include jaw-opening, jaw-closing, jaw-deviating, lingual, perioral and/or pharyngeal dystonia. Dystonic spasms may result in clenching, or trismus; grinding of the teeth, or bruxism; tongue thrusting; lip pursing; and other movements.

    Evidence-based reviews and clinical experience strongly regard botulinum neurotoxin (BoNT) injection as the first-line treatment for OMD. Patients with OMD require careful examination to determine the particular muscles involved and their pattern of contraction to enable proper selection and targeting for BoNT injection. This chapter enumerates the particular muscles involved in each subtype of OMD, discusses localization and approach for injection and use of guidance techniques where applicable, and tabulates typical dose ranges for different formulations of BoNT. Typical adverse events and techniques to avoid them are discussed.