Open AccessHereditary inclusion body myopathy: a clinical and genetic review
Author(s) -
Paulo Victor Sgobbi de Souza,
Bruno de Mattos Lombardi Badia,
Eduardo Augusto Gonçalves,
Igor Braga Farias,
Wladimir Bocca Vieira de Rezende Pinto,
Acary Souza Bullé Oliveira
Publication year - 2020
Publication title -
revista neurociências
Language(s) - English
Resource type - Journals
eISSN - 1984-4905
pISSN - 0104-3579
DOI - 10.34024/rnc.2020.v28.10569
Subject(s) - inclusion body myositis , myopathy , medicine , myositis , inflammatory myopathy , genetic diagnosis , clinical practice , genetic disorder , genetic testing , inclusion (mineral) , pathology , genetics , physical therapy , disease , psychology , biology , social psychology , gene
. 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.