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Muscle & nerve
12, 2022;66 (6): 686-693.

Atypical presentations of inclusion body myositis: Clinical characteristics and long-term outcomes.

Mazen Alamr, Marcus V Pinto, Elie Naddaf
Author Information
  1. Mazen Alamr: Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. ORCID
  2. Marcus V Pinto: Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. ORCID
  3. Elie Naddaf: Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. ORCID
PMID: 36052422 DOI: 10.1002/mus.27716

Abstract

INTRODUCTIONS/AIMS: Inclusion body myositis (IBM) typically presents with progressive weakness preferentially involving finger flexors and quadriceps. Atypical presentations have been less commonly reported. Here, we aim to describe the clinical characteristics and long-term outcomes of IBM patients with atypical presentations.
METHODS: We retrospectively searched the Mayo Clinic medical records to identify IBM patients with atypical disease onset, seen between 2015 and 2020.
RESULTS: We identified 357 IBM patients, of whom 50 (14%) had an atypical presentation. Thirty-eight patients were diagnosed with IBM because they fulfilled one of the European Neuromuscular Center diagnostic categories at a later stage, 10 had all IBM histopathological features, and 2 were diagnosed on the basis of clinical and laboratory data. The most common presentation was dysphagia (50%), followed by asymptomatic hyperCKemia (24%; CK, creatine kinase), then foot drop (12%). 6% of patients presented with proximal arm weakness, 4% with axial weakness and 4% with facial diplegia. Median time from symptom onset to diagnosis was 9 y. Median age at diagnosis was 70.5 y. 16% of patients needed a walking aid. When tested, 86.5% of patients had impaired swallowing and 56% had elevated cytosolic nucleotidase-1A antibodies. Only 1/26 patients who received immunotherapy had minimal improvement. Upon follow-up, most patients had generalization of their weakness with a decline in their strength summated score of 0.082/mo.
DISCUSSION: A significant proportion of IBM patients may have an atypical presentation. Recognition of such heterogeneity could improve early diagnosis, prevent unnecessary immunotherapy, and provide insight for future diagnostic criteria development and clinical trials.

Keywords

asymptomatic hyperCKemia axial myopathy dysphagia foot drop inclusion body myositis

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MeSH Term

Humans
Creatine Kinase
Deglutition
Deglutition Disorders
Immunologic Factors
Myositis
Myositis, Inclusion Body
Retrospective Studies

Chemicals

Creatine Kinase
Immunologic Factors
Journal Article
Article has an altmetric score of 9

Word Cloud

Created with Highcharts 10.0.0patientsIBMweaknessatypicalbodypresentationsclinicalpresentationdiagnosismyositisAtypicalcharacteristicslong-termoutcomesonsetdiagnoseddiagnosticdysphagiaasymptomatichyperCKemiafootdrop4%axialMedianimmunotherapyinclusionINTRODUCTIONS/AIMS:InclusiontypicallypresentsprogressivepreferentiallyinvolvingfingerflexorsquadricepslesscommonlyreportedaimdescribeMETHODS:retrospectivelysearchedMayoClinicmedicalrecordsidentifydiseaseseen20152020RESULTS:identified3575014%Thirty-eightfulfilledoneEuropeanNeuromuscularCentercategorieslaterstage10histopathologicalfeatures2basislaboratorydatacommon50%followed24%CKcreatinekinase12%6%presentedproximalarmfacialdiplegiatimesymptom9 yage705 y16%neededwalkingaidtested865%impairedswallowing56%elevatedcytosolicnucleotidase-1Aantibodies1/26receivedminimalimprovementUponfollow-upgeneralizationdeclinestrengthsummatedscore0082/moDISCUSSION:significantproportionmayRecognitionheterogeneityimproveearlypreventunnecessaryprovideinsightfuturecriteriadevelopmenttrialsmyositis:Clinicalmyopathy

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