OBJECTIVES: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease for which there are no approved pharmacological interventions. As the disease progresses, patients lose upper limb function and mobility, often resulting in challenges performing activities of daily living, independence, and chronic pain. This systematic literature review assessed the existing evidence base in FSHD, including the humanistic burden of disease.

METHODS: A systematic literature review was conducted by searching PubMed, EMBASE and Cochrane Reviews databases for studies reporting on FSHD, with no limits on interventions, comparators, outcomes, study design or date of publication. In addition, three conferences not indexed in EMBASE were hand searched (limited to last three years). Screening was performed in two steps by two independent researchers at both the title and abstract and full text review stage. Articles were categorized according to topic reported, including: pharmacological and non-pharmacological treatments and outcomes; outcome measures and validation; humanistic burden and patient reported outcomes (PROs); disease classification; diagnosis; guidelines and economic burden.

RESULTS: A total of 2,211 full texts and 754 conference abstracts were identified for review with 153 full texts and 101 conference abstracts meeting the pre-specified inclusion criteria. Among the conference abstracts (n=15) and full texts (n=30) assessing humanistic burden, a total of 53 different instruments were identified assessing general quality of life (QoL), disease-specific QoL, depression, anxiety, fatigue, pain, sleep or other. The short-form 36 was the most frequently used tool (n=11), followed by the Checklist Individual Strength (n=6).

CONCLUSIONS: Despite being the second most prevalent form of muscular dystrophy, there is a lack of consensus on instruments used to assess the humanistic burden among FSHD patients. Efforts should be maintained on harmonizing assessments on the impact of the debilitating and progressive nature of FSHD as research on treatment options continue.