An update on diagnostic options and considerations in limb girdle dystrophies.

An update on diagnostic options and considerations in limb girdle dystrophies. Expert Rev Neurother. 2018 Aug 07;: Authors: Angelini C, Giaretta L, Marozzo R Abstract INTRODUCTION: Limb Girdle Muscular Dystrophies (LGMD) encompasses a clinically heterogeneous group of rare, genetic progressive muscle disorders presenting with weakness and atrophy of predominant pelvic and shoulder muscles. The spectrum of disease severity ranges from severe childhood-onset muscular dystrophy to adult-onset dystrophy. Areas covered: The review presents an update of the clinical phenotypes and diagnostic options for LGMD including both dominant and recessive LGMD and consider their differential clinical and histopathological features. An overview of most common phenotypes and of possible complications is given. The management of the main clinical respiratory, cardiac and central nervous system complications are covered. The instrumental, muscle imaging and laboratory exams to assess and reach diagnosis are described. The use of recent genetic techniques such as Next Generation Sequencing (NGS), whole exome sequencing compared to other techniques (e.g. DNA sequencing, protein analysis) is covered. Currently available drugs or gene therapy and rehabilitation management are focused on. Expert Commentary: Many LGMD cases, which for a long time previously remained without a molecular diagnosis, can now be investigated by NGS. Gene mutation analysis is always required to obtain ...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research