Article ; Online: Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A "triple trouble" case report and review of the literature on the association of MS and muscle disorders.
2021 Volume 31, Issue 11, Page(s) 1179–1185
Abstract: We describe herein a "triple trouble" case of a patient affected by Facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a previous history of poliomyelitis, who later developed multiple sclerosis (MS). Association of muscle disorders and MS is ... ...
Abstract | We describe herein a "triple trouble" case of a patient affected by Facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a previous history of poliomyelitis, who later developed multiple sclerosis (MS). Association of muscle disorders and MS is uncommon; in fact, there are only three case reports of this unusual co-occurrence. As regard as this combination, some hypotheses have been raised about the role of immunological factors. Genetic basis of FSHD1 is a deletion of a critical number of macrosatellite repeats (D4Z4) in the subtelomeric region of chromosome 4q35, resulting in transcriptional de-repression of a gene DUX4. This molecular change could induce an alteration of immune responses, likely conferring susceptibility to both diseases. In this case, poliomyelitis could have delayed the FSHD1 diagnosis and likely acted as a trigger for MS onset. Association of multiple neurological disorders has to be kept in mind to avoid misinterpretation of symptoms and diagnostic delays. |
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MeSH term(s) | Adolescent ; Epigenesis, Genetic ; Female ; Gene Expression ; Humans ; Male ; Multiple Sclerosis/complications ; Muscular Dystrophy, Facioscapulohumeral/complications ; Poliomyelitis/complications ; Young Adult |
Language | English |
Publishing date | 2021-06-18 |
Publishing country | England |
Document type | Case Reports |
ZDB-ID | 1077681-3 |
ISSN | 1873-2364 ; 0960-8966 |
ISSN (online) | 1873-2364 |
ISSN | 0960-8966 |
DOI | 10.1016/j.nmd.2021.06.006 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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