Muscular dystrophy in a patient with multiple sclerosis. Another “double-trouble”?

• DOI: 10.1016/j.msard.2015.06.007
• Publication Date: 2015-06-17T00:40:36Z
• Authors: Dimitrios Parissis; Panagiotis Ioannidis; Christos Bakirtzis; Nikolaos Grigoriadis; Dimitrios Karacostas
• Keywords: Facioscapulohumeral muscular dystrophy; Dystrophy; Pathogenesis

Facioscapulohumeral muscular dystrophy (FSHD) is considered a relatively common muscular dystrophy affecting approximately 1:15,000 individuals in the general population. Single case reports have described the rare co-occurrence of FSHD with other hereditary neuromuscular disorders, leading to atypical phenotypes. We report herein the case of a 26-year-old woman with genetically proven FSHD, who additionally developed otherwise typical multiple sclerosis (MS). Although there is no direct relationship between FSHD and MS, they might, nevertheless, share some common pathophysiological mechanisms, as recent research suggests. In particular, we comment on the potential, but not yet proven, role of immunological factors in the pathogenesis of FSHD.