What a New Study on FSHD and Mortality Means for Our Community

by Amanda Hill, Research & Care Programs Officer at the FSHD Society, and Ally Roets, Parent, Caregiver, CureFSHD for All Advocate and Parents’ Roundtable Leader

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Many of us in the FSHD community know someone who has passed away, sometimes seemingly too young, often from a fall or a respiratory problem that may have been connected to FSHD. For years, FSHD has been described as a disease that does not shorten life expectancy, but this claim is not backed by data. A new study published in the Journal of the Neurological Sciences reviewed all the published data on mortality in FSHD, and the findings are both important and imperfect.¹

What the Researchers Did

The research team searched all available published studies to find every piece of data on deaths in people with FSHD. This type of study is called a systematic literature review. They found eight studies, conducted between 1979 and 2016, covering a total of 1,091 people with FSHD across five countries. Importantly, none of these studies were originally designed to examine mortality, but they reported deaths when they occurred. This is a major limitation that requires us to interpret the findings with great caution.

What the Study Found

The eight studies were divided into two groups: studies that focused only on people with early-onset FSHD, and studies that included both early-onset and classical FSHD.

Early-onset FSHD (2 studies, 18 patients total):

• 5 deaths were reported (27.8%)
• Average age at death: 18.4 years (ages ranged from 15–31 years)
• Causes of death included respiratory failure and cardiac arrest

Both early-onset and classical FSHD (6 studies, 1,073 patients total):

• 85 deaths were reported (7.9%)
• Average age at death: 62.6 years (ages ranged from 11–83 years)
• The most common causes of death were respiratory illness and heart disease

How to Understand the Findings

The early-onset findings look especially alarming at first glance, and in the publication, the authors stress how serious the limitations are for interpreting this data. The entire early-onset group covered only 18 patients across just two studies. That is an extremely small number from which to draw any general conclusions.

Furthermore, of the 18 patients, 8 were from a single family in one study, and 10 were from another small cohort. When most cases originate from just one or two sources, particularly single families, it’s likely that the data represents those very specific, possibly more severely affected individuals, rather than the broader early-onset population.

Importantly, these results should NOT be read as meaning that more than 1 in 4 children with early-onset FSHD will die in their teens or young adulthood. What it does mean is that there is limited but concerning evidence that FSHD — especially the early-onset form — may contribute to earlier death than previously understood, and that we urgently need well-designed studies to find out the full picture.

Across both the early-onset and more general findings, there are several additional reasons to be cautious with interpretation. For example:

• The studies included specialized clinics, which may be more focused on more severe cases and may underrepresent people with milder disease who don’t seek specialized care.
• Many studies were conducted before the genetics of FSHD were fully understood, so those cases were not genetically confirmed as FSHD.
• The study did not consider other conditions that can contribute to early mortality (e.g., cancer or Alzheimer’s disease).
• Life expectancy varies between countries and over time. In most countries, people live much longer now than they did in the 1970’s. Yet this study lumps together cases across countries and over decades.
• Early FSHD clinical care guidelines did not include pulmonary function testing, so respiratory interventions may not have been routinely prescribed.

Why This Still Matters

Even with its limitations, this study is the first to bring together all available data on mortality in FSHD in a single place. And the message is clear: FSHD cannot continue to be treated as a disease with no impact on life expectancy. The evidence, while limited, suggests a real risk, particularly for those with early-onset.

The most common reported cause of death in the studies was related to respiratory failure or illness. Respiratory impairment is a serious complication of FSHD and should be closely monitored. Patients should recognize its potential impact on life expectancy and be educated on interventions such as BiPAP, cough assist, and other respiratory support equipment that may help mitigate respiratory complications.

The review also highlights how little research has focused on mortality in FSHD. None of the included studies were designed to track mortality from the start. Properly designed mortality studies are urgently needed. In addition, the review highlights urgent needs for the early-onset FSHD community, including inclusion in clinical trials and access to future approved therapies as quickly as possible.

How You Can Help

• Ensure regular pulmonary and cardiac evaluation and monitoring for yourself and/or your child during clinical care.
• Advocate for dedicated research into mortality in FSHD, especially in children and young adults.
• Push for the inclusion of pediatric patients in FSHD clinical trials.
• Urge regulators to ensure that when treatments are approved, children and non-ambulatory, severely affected adults are included in the drug label from the start.
• Encourage pharmaceutical companies conducting clinical trials to provide expanded access programs for severely affected individuals who do not meet the inclusion criteria and are at increased risk of mortality.
• Educate others on the serious and urgent nature of FSHD.

The FSHD community deserves answers about mortality and life expectancy. This study is a critical first step in asking the right questions. Together, we can make sure those questions get answered.

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References

1. Li KH, Thakker D, Sarah B, Hill AA, Ng-Mak D. Mortality associated with facioscapulohumeral muscular dystrophy: A systematic literature review. Journal of the Neurological Sciences. doi: 10.1016/j.jns.2026.125984.