Clinical spectrum of manifestations in symptomatic female with Duchenne muscular dystrophy: A concise review

Abstract

Duchenne Muscular Dystrophy (DMD) is a rare genetic disease, characterized by a severe, progressive muscle-weakening. Due to the localisation of the dystrophin gene in the X chromosome, DMD primarily affects males, but similar dystrophinopathies, that mimic DMD, can occur in females. The aim of this article is to present the main findings described in literature about these unusual dystrophinopathies clinical manifestations in females, in order to ease the practical approach to these conditions This article is a non-systematic review, with a view to presenting a critical review –all articles were researched in public databases PubMed, Medline, ScienceDirect, SciELO and Cochrane. Clinical presentation in female carriers shall vary from the traditional form in regards to the degrees and patterns of dysfunction, justified by the presence of a normal allele, as well as distinctive mutational mechanisms. Usually present with asymmetric bilateral leg weakness, myalgia, cramps, fatigue, calf muscles pseudohypertrophy, and dilated cardiomyopathy. Pathogenic variants in the DMD gene must be considered in the differential diagnosis of myopathic-suggestive clinical conditions, even in unusual presentations, such as female patients with muscular weakness or asymptomatic elevation of creatine kinase.