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

Autor: Dimitrios Parissis, Christos Bakirtzis, D. Karacostas, Nikolaos Grigoriadis, Panagiotis Ioannidis
Rok vydání: 2015
Předmět:
Zdroj: Multiple Sclerosis and Related Disorders. 4:342-344
ISSN: 2211-0348
DOI: 10.1016/j.msard.2015.06.007
Popis: 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.
Databáze: OpenAIRE