Hereditary inclusion body myopathy: a clinical and genetic review

Paulo Victor Sgobbi De Souza,Eduardo Augusto Gonçalves,Wladimir Bocca Vieira De Rezende Pinto,Bruno De Mattos Lombardi Badia,Igor Braga Farias,Acary Souza Bulle Oliveira

doi:10.34024/rnc.2020.v28.10569

Abstract

Introduction. Inclusion body myositis represents the most common acquired myopathy in clinical practice in patients over 50 years old. Despite classical approach to this myopathy as an inflammatory disorder, a muscle degenerative disorder is now considered the main mechanism linked to these vacuolar myopathies. Hereditary presentations, although quite rare, represent an expanding and underrecognized group in clinical practice. Objective. perform a structured review of the current literature regarding hereditary inclusion body myopathies. Method. review of U.S. NLM PubMed and MEDLINE database of original articles, case reports, case series and review articles including the terms “inclusion body myositis” OR “inclusion body myopathy” AND “genetics” OR “hereditary”. Results. We present in this article a wide review regarding the main clinical, imaging, pathophysiological, genetic and therapeutic aspects related to hereditary myopathies linked to seven different clinical and genetic presentations (GNE, MATR3, VCP, SQSTM1, MYH2, HNRNPA2B1 and HNRNPA1). Conclusion. Hereditary inclusion body myopathy is associated with at least 7 distinct clinic and genetic monogenic forms.

Highlights

Inclusion body myositis represents the most common acquired myopathy in clinical practice in patients over 50 years old
Looking for a wide review of the current knowledge on the clinical and genetic presentation of hereditary IBM (hIBM), a wide review of the literature was performed using a structured search in the database of article citations for medical and biomedical current literature from PubMed/MEDLINE and PubMed Central (PMC) (U.S Department of Health and Human Services, U.S National Institutes of Health-NIH biomedical research agency, National Center for Biotechnology Information-NCBI, U.S National Library of Medicine) database, based on MeSH (Medical Subject Heading) vocabulary used for indexing article propose
The strategy used in the referred database searching engine provided 1899 distinct manuscripts during the described period for “inclusion body myositis”, including 510 review manuscripts, 11 systematic review, 323 case reports and 20 randomized controlled trials

Summary

Introduction

Inclusion body myositis represents the most common acquired myopathy in clinical practice in patients over 50 years old. Inflammatory myopathies represent the main group of acquired myopathies in clinical practice with well-established clinical, laboratorial, imaging and therapeutical aspects related to idiopathic and paraneoplastic polymyositis and dermatomyositis[1]. Sporadic IBM (sIBM) represents the main acquired myopathy in patients over the age of 50 years, being frequently underdiagnosed, especially in the early stages of clinical compromise in which there is a clear predominance of selective weakness in long flexors of the fingers and forearms and quadriceps femoris before progression to scapular girdle, lower limb distal groups and bulbar regions[4,10,11]. As the only therapeutic approach with well-documented efficacy and safety, intravenous immunoglobulin has been used with partial benefit in cases of IBM with dysphagia[7]

Methods

Results

Conclusion