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Two emerging phenotypes of atypical inclusion body myositis: illustrative cases

Salam, Sharfaraz; Morrow, Jasper M; Howard, Robin; Miller, James AL; Quinlivan, Ros M; Machado, Pedro M; (2023) Two emerging phenotypes of atypical inclusion body myositis: illustrative cases. Clinical and Experimental Rheumatology , 41 (2) pp. 340-347. 10.55563/clinexprheumatol/jq7zxd. Green open access

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Abstract

OBJECTIVES: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in those aged above 50. It is classically heralded by weakness in the long finger flexors and quadriceps. The aim of this article is to describe five atypical cases of IBM, outlining two potential emerging clinical subsets of the disease. METHODS: We reviewed relevant clinical documentation and pertinent investigations for five patients with IBM. RESULTS: The first phenotype we describe is young-onset IBM in two patients who had symptoms since their early thirties. The literature supports that IBM can rarely present in this age range or younger. We describe a second phenotype in three middle-aged women who developed early bilateral facial weakness at presentation in tandem with dysphagia and bulbar impairment followed by respiratory failure requiring non-invasive ventilation (NIV). Within this group, two patients were noted to have macroglossia, another possible rare feature of IBM. CONCLUSIONS: Despite the classical phenotype described within the literature IBM can present in a heterogenous fashion. It is important to recognise IBM in younger patients and investigate for specific associations. The described pattern of facial diplegia, severe dysphagia, bulbar dysfunction and respiratory failure in female IBM patients requires further characterisation. Patients with this clinical pattern may require more complex and supportive management. Macroglossia is a potentially under recognised feature of IBM. The presence of macroglossia in IBM warrants further study, as its presence may lead to unnecessary investigations and delay diagnosis.

Type: Article
Title: Two emerging phenotypes of atypical inclusion body myositis: illustrative cases
Location: Italy
Open access status: An open access version is available from UCL Discovery
DOI: 10.55563/clinexprheumatol/jq7zxd
Publisher version: https://doi.org/10.55563/clinexprheumatol/jq7zxd
Language: English
Additional information: This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Deglutition Disorders, Female, Humans, Macroglossia, Myositis, Inclusion Body, Phenotype
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10166614
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