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Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases
Volume 11, issue 3

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Rasing, Nathaniël B. | van de Geest-Buit, Willianne A. | Chan, On Ying A. | Mul, Karlien | Lanser, Anke | van Engelen, Baziel G.M. | Erasmus, Corrie E. | Fischer, Agneta H. | Ingels, Koen J.A.O. | Post, Bart | Siemann, Ietske | Groothuis, Jan T. | Voermans, Nicol C.

Background: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.

Objective: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.

Methods: A systematic search was performed. Selected studies had to include FSHD, Bell’s palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson’s disease and treatment options which target altered facial expression. Data was extracted for study and patients’ characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.

Results: Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell’s palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.

Conclusions: Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.