The value of immunological studies in the diagnosis of LGMD2

Muscular dystrophies are a heterogeneous group of hereditary diseases characterized by muscle fiber degeneration. They manifest clinically as progressive onset and worsening muscle weakness. The aim of our work is to study the contribution of immunological studies in the diagnosis of Limb Girdle Muscular Dystrophies (LGMD2). Our study is retrospective, covering patients treated for LGMD2 at the Sfax Neurology Department over a period of 10 years. We selected 30 cases from 23 families who met the inclusion criteria. All our patients benefited from a protein study involving immunohistochemistry and/or Western blot accompanied by a genetic study using Next generation sequencing. Our study shows that the immunological study can guide the genetic study and specify the clinical phenotype for patients with limb-girdle myopathy.