Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of the face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy). Symptoms usually appear before the patient is 20 years of age. In most people with FSHD, the disease progresses very slowly, it can take as long as 30 years for the disease to become seriously disabling, and that does not happen to everyone. Estimates are that about 20% of people with FSHD eventually use a wheelchair at least some of the time. There is currently no cure.

For World FSHD Day we’ve asked some of our members who specialise in FSHD to tell us about their jobs and what’s next for patients with FSHD.

Emma Robinson is a neuromuscular research physiotherapist at the John Walton Muscular Dystrophy Research Centre in Newcastle, UK.

We asked her what drew her to FSHD, Emma said: “FSHD is an interesting condition as it is very variable and can affect people in different ways in terms of its severity and rate of progression. I am interested in looking for patterns or prognostic indicators which will enable us to give people with the condition a clearer picture of how it may affect them over time and to develop standards of care for the population.”

Emma is a physiotherapist and sees people with FSHD in the clinic for annual reviews. “This enables me to gather longer term information and data to inform our team how the condition progresses for individuals over time and how it affects them on a day-to-day basis.” She says, “Analysing this information will enable us to have a better understanding of how the condition progresses, which in turn allows us to ensure that appropriate equipment or interventions are in place to improve the quality of life for people with FSHD.”

Emma is excited by what the long-term data might show: “We are currently looking at respiratory function in individuals with FSHD. We hope that this will give us a better idea of how respiratory function is impacted for people with FSHD and what may or may not drive this.”

Sanne Vincenten is a neurology resident and PhD student at Radboud Medical Center in the Netherlands.

Sanne developed an interest in neuromuscular research during medical school and reached out to Professor Baziel van Engelen. “He suggested I start working on the large Dutch cohort study on FSHD patients. Ever since I have been fascinated by the disease because of its clinical heterogeneity, and I really enjoy working with the motivated patient group.”

“My research focuses on capturing the natural history of FSHD; using clinical outcome measures but mostly using muscle imaging like MRI and ultrasound.”

Looking to the future, Sanne is excited about the way the research community is currently working together to increase clinical trial readiness and efficiency. “Together with the multitude of running and upcoming clinical trials, we are creating the perfect circumstances to find disease-modifying treatment options for FSHD patients.”

Robert Muni is a consultant physiotherapist and honorary clinical senior lecturer at the John Walton Muscular Dystrophy Research Centre in Newcastle, UK

He has been working at the John Walton Muscular Dystrophy Research Centre for 10 years and finds it very satisfying. Asked what drew him to FSHD, Robert said: “With FSHD, as a physiotherapist, the possibility to engage with proactive management and exploring the possibilities of exercises is probably the most exciting part of it.

“We follow up our cohort of patients from the North of England but also we would like to contribute to the body of knowledge on disease progression that supports their care provision. In addition to this, we aim to develop new outcome measures and to explore how to improve care for people living with FSHD.”

Robert believes there is hope for patients with FSHD: “The fact that new therapies are coming will bring a lot of attention to this condition. We would like to use the experience with SMA to improve the understanding of the current landscape in terms of the provision of care but also the understanding of the natural course of the disease with the development of disease specific outcome measures. All this will help us to optimise the effect of new therapies for the whole community as they become available.”

Maaike Pelsma is a paediatric physiotherapist and clinical epidemiologist at Radboud Medical Center in the Netherlands.

She has been interested in FSHD since first working with a group of children with the condition. She says: “They are intelligent children, who often participate well within society. You don't hear them complaining easily, yet they often have their limitations, which can hinder them a lot. Sometimes these are things that we can improve with a small amount of advice or therapy.

I frequently see these children in our FSHD expertise centre at Amalia Children’s Hospital, part of Radboud University Medical Center. They come for a diagnosis or once a year for a check-up. We then give advice to these children and their parents, together with our multidisciplinary team and give concrete advice to primary care practitioners.

“I also perform research in children with FSHD for therapy to improve their shoulder function, specifically their scapular motor control. And I see children with FSHD within our natural history study.

Maaike also believes there is hope for children with FSHD: “The development of medication to inhibit the disease is underway, this is very valuable and hopefully this will reduce symptoms and the children will experience fewer problems. I am also interested in optimising the shoulder function as early as possible, we hope that this will slow down the progression of the disease.

We also asked each of our interviewees what they wanted people who aren’t experts in FSHD to know about the disease to know. Here’s what they said:  

Emma “I would like them to know how someone with FSHD may present and what difficulties or challenges that may lead to in terms of daily life, employment, and community accessibility. Awareness of this can potentially lead to problem solving, enabling inclusivity and a better quality of life.”

Sanne “Facial weakness is only apparent in approximately 90% of FSHD patients, the remaining 10% of patients do not show any sign of facial muscle involvement. This is part of the clinical heterogeneity of the disease, but can delay an accurate diagnosis of FSHD.”

Robert “The potential of improving the quality of life of people living with FSHD is tremendous (exercise, supportive care, scapular winging management, etc). Despite being a progressive condition, the satisfaction of seeing a positive response to suggested interventions is incredibly rewarding.”

Maaike: “FSHD is a disease that you don't always see from the outside, sometimes children are unfairly blamed for having little emotion, when this is only because they have less facial mimicry. Also, it may not be visible how much pain or fatigue these children experience, while it does affect their quality of life. It is important to pay attention to this. Understanding can help these children.”