Facioscapulohumeral Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent forms of muscular dystrophy. The name refers to how FSHD affects muscles of the face (facio), scapula (scapulo), and humerus (humeral). It caan present with a wide range of onset and severity. Treatment options for FSHD are limited, and supportive care is often the main approach. FSHD has two recognized forms, FSHD type 1 (autosomal dominant) and FSHD type 2 (digenic) which present similarly. The pathophysiology of FSHD is not fully understood, but it is thought to involve mutations leading to the activation of a normally inactive transcription factor, DUX4. Chronic pain is common.^[1]

References

↑ Morís, Germán; Wood, Libby; FernáNdez-Torrón, Roberto; González Coraspe, José Andrés; Turner, Chris; Hilton-Jones, David; Norwood, Fiona; Willis, Tracey; Parton, Matt; Rogers, Mark; Hammans, Simon (2018-03). "Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy". Muscle & Nerve. 57 (3): 380–387. doi:10.1002/mus.25991. ISSN 1097-4598. PMC 5836962. PMID 29053898. Check date values in: |date= (help)

Literature Review

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[1] Morís, Germán; Wood, Libby; FernáNdez-Torrón, Roberto; González Coraspe, José Andrés; Turner, Chris; Hilton-Jones, David; Norwood, Fiona; Willis, Tracey; Parton, Matt; Rogers, Mark; Hammans, Simon (2018-03). "Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy". Muscle & Nerve. 57 (3): 380–387. doi:10.1002/mus.25991. ISSN 1097-4598. PMC 5836962. PMID 29053898. Check date values in: |date= (help)

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