Do you or your family members have FSHD (Muscular Dystrophy)? Help us change how the disease is characterized!

Jennifer Brout
12 min readMar 14, 2023

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Jennifer Brout,Michele Langer & Kristen Zwickau

Reviewed for technical accuracy by Peter Jones, Associate Professor, Mick Hitchcock Endowed Chair of Medical Biochemistry, Peter and Takako Jones Lab for FSHD University of Nevada, Reno School of Medicine, Reno, Nevada.

March 14, 2023

Introduction

According to leaders of the patient community, the 135-year-old definition of facioscapulohumeral muscular dystrophy (FSHD) is outdated and inadequately reflects the devastating nature of symptoms and the severe burden of this rare, variably progressive disease. For patients, every moment this disease remains underappreciated or underrecognized means continued muscle wasting, physical decline and inevitable hardship.

After discovery by Landouzy and Dejerine in 1884, FSHD was renamed in 1950 by its clinical features, which appeared to be weakness in the face (facio), shoulders (scapula), and upper arms (humerus) (Tyler and Stephens, 1950). In 1982, George Padberg, MD, PhD, published the definitive clinical characterization of the disease in his seminal thesis “Facioscapulohumeral Disease.” The Padberg thesis is probably the most referenced paper in the FSHD field. Unfortunately, the fact that it was published in 1982, more than 12 years before genetic testing for FSHD became available, demonstrates it obsolescence. Since 1993 when the gene location was found, there has been an increase in studies related to FSHD among a small group of interested researchers. However, the patient community feels that most doctors are still unfamiliar with this research and that the name of the disease and the disease itself continue to cause great confusion.

The common “look” of an FSHD patient was characterized by protruding winged shoulder blades and a mouth that was partially or fully immobilized due to muscle loss (resembling that of a person who has had a stroke). The disease has been further characterized as “moving down” toward the lower half of the body, affecting muscles in the core and the legs. Particularly notable is the impact that FSHD has on the feet, causing “foot drop,” making it difficult for people to walk. However, among current FSHD researchers (e.g., Johnson et al., 2012; Tawil, 2018) it is clear that this disease can strike a myriad of skeletal muscles in the body, rendering an unpredictable presentation as well as an unpredictable disease trajectory. While the disease biology is generally understood, the rate of progression is heterogeneous and can vary throughout the course of the disease.

Most research in FSHD has so far related to the underlying genetic mechanisms of the disease and potential of disease intervention. As a result, the catastrophic nature of living with FSHD has been obscured. While one in five people with FSHD are known to be in a wheelchair by age 50, this statistic (if still accurate) does not reflect the significant percentage of patients who are otherwise highly compromised, using wheelchairs some of the time as well as scooters, walkers, rollators, and other adaptive equipment. This statistic does not describe the early onset cases of FSHD, in which young children are in wheelchairs before they have reached adolescence. This statistic does not reflect the numbers of infants born with FSHD, referred to as having “infantile onset.” This statistic does not describe the debilitating pain experienced by over 70 percent of patients, the impact muscle loss has on general health or the fact that FSHD carries several serious health complications (such as breathing difficulties, cardiac problems, hearing loss and retinal problems) that are little known even in the medical community. It does not reflect either the variability of FSHD, with a disease course that differs from individual to individual. Finally, the social and emotional burden on patients as well as their caregivers also remain under reported.

In response to growing frustration in the patient community regarding clinical definitions and assumptions about FSHD, a group of patients joined together to present a first-hand range of perspectives to reflect the impact of FSHD more accurately on patients and caregivers. Following is an outline of their perspectives on the real-world effects of FSHD, the patient community’s collective experience living with the burden of FSHD, and the urgent need for safe and effective treatments.

Perspectives from the FSHD patient community

The current definition of FSHD does not adequately describe the extent of the disease progression and the devastating toll it takes on the body.

FSHD is typically associated with weakening and atrophy of muscles of the neck and shoulder blades and muscles at the front and back of the upper arms (biceps and triceps brachii muscles), slowly progressing downward to the core, legs, ankles and feet (rarediseases.org).

In our real-world experience, FSHD is a much more aggressive and disabling disease than has been characterized on many trusted medical websites and in academic literature. While the primary focus in clinical definitions of FSHD focuses on the upper body, muscles can be affected globally- not just in the face, shoulder blades and upper arms. Patients also experience progressive decline and loss of abdominals, gluteal muscles, hip abductors, quadriceps, hamstrings, soleus (calf), the tibialis anterior and ankle dorsiflexors. We must focus more on the impact in these areas to support optimal care. Moreover, the core muscles of the abdomen and the muscles of the back, the paraspinal muscles, are often severely affected. This makes getting out of bed difficult and interferes with one’s posture, making it difficult to walk, increasing the risk of falls, and often causing significant upper and lower back pain.

Many patients also experience moderate to severe negative impact on breathing due to loss of diaphragm function. One of the most devastating and often under-acknowledged results of having FSHD is the need for breathing assistance such as BiPAP and ventilators. Diaphragm weakness also places patients at increased risk for breathing difficulties during surgeries that require anesthesia.

“For years doctors told my brother he had COPD. Nobody ever gave him a BiPAP and he just suffered. I guess they weren’t looking at the research or the research just wasn’t out there.” — Caregiver

Severe manifestations of FSHD may also be associated with sleep-disordered breathing (SDB), including obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH), but prevalence data are scarce. In patients with respiratory muscle weakness, detection of NH can be facilitated by transcutaneous capnometry, but respective data derived from FSHD patients have not yet been published (Runte, Spiesshoefer, & Heidbreder, et al, 2019).

Although respiratory weakness is a relatively unknown feature of FSHD, it is not uncommon. One study reported that almost all patients will develop restrictive lung disease and 10–20% will suffer from pulmonary complications (Hazenberg, van Alfen, Voet,Kerstjens, & Wijkstra, 2015). Unfortunately, FSHD is often referred to as not being a life-threatening disease, with patients having a normal life span. However, individuals with severe FSHD can die due to complications associated with their disease-induced respiratory insufficiency and associated altered blood chemistry. FSHD can in fact shorten one’s life.

The long-term cardiac effects on FSHD patients are also poorly understood and there is reason for great concern. One patient stated, “Recently I was diagnosed with atrio-ventricular block, which the cardiologist attributed to FSHD. There is no history of cardiac disease in my family. Although this type of arrhythmia is for the most part benign, it can become significant in the presence of future cardiac pathology. So now I can add this to the list of things I have to worry about!”

The focus on the impact of FSHD on the upper extremities is well documented, but it is often incomplete. For example, there is not wide reference to the fact that upper facial weakness can lead to the inability to completely close the eyes during sleep. This can lead to severe dry eyes, corneal scratches and poor sleep. In early, childhood onset FSHD, retinal vascular abnormalities can occur and lead to blindness. Additionally hearing loss, sometimes requiring hearing aids, can occur in childhood onset FSHD.

While the disease biology is generally understood, the rate of progression is heterogeneous and can vary. This variability is important to consider in planning for treatment. Patients report both physical and emotional deterioration associated with progressive and unpredictable decline. As one patient, a nurse living with FSHD, said, “FSHD creates a consistent grieving process — when you finally adjust to current progressive changes, in a short time you progress further and create a new grieving cycle. Any hope is dashed.”

Patients also note that it is imperative to take steps to try to slow or halt any progression before patients experience a decline in skills and abilities. According to one patient, “Three years ago, I was flying to Iceland. Now I can barely go for a walk.”

The complications of the disease are financially and emotionally devastating, and lead to serious issues in daily living and poor quality of life.

While clinical definitions of FSHD do focus on the impact on mobility, these assessments often do not tell the whole story. Noting that 20% of patients need a wheelchair by age 50 does not make clear that many must be lifted by other people or by using expensive equipment including personal lift systems. These systems can be unreliable and difficult to operate and are often not covered by insurance.

In addition, statistics on the use of wheelchairs can make it sound like all other patients are doing fine. In fact, many are also severely disabled despite being ambulatory. Patients report being unable to stand or walk without assistance. Many who can walk still cannot stand from a chair, climb stairs, or walk without falling or without support from a walker or rollator. Many become housebound, with one patient reporting, “I was an outside person all my life…now I never leave the house.”

The burden on caregivers can also be extremely challenging. Because of muscle decline, many patients cannot feed themselves or bathe on their own. Some cannot roll over in bed, which can lead to extraordinary pain and infection from pressure wounds. Problems with daily living can extend to basic hygiene when patients can be unable to lift their arms to wash, brush their teeth or comb their hair. For patients who do not have one or a team of caregivers, there is a risk of more rapid decline and a range of health and safety risks. One patient reported, “I wanted to get a walk-in tub but then I realized I couldn’t get up from the seat. Why don’t they make ones with variable seat heights?” Another stated, “I’m a grown woman wearing a diaper — this is beyond what I ever thought my life would be.”

Because of the physical burden of FSHD, patients often feel at risk or simply do not have the strength or will to leave their home. “I can walk but I cannot step up into any car or van that is high. You would be surprised how many cars are hard to get into, and I can’t take buses.” And another individual with FSHD commented, “I want to go visit my son, but I am terrified to take a train because of that space that sometimes occurs between the platform and the train — I’m scared I won’t make it, or I’ll fall.”

Weakness, instability, and immobility caused by FSHD, mean that many patients are unable to work and must rely on caregivers and home healthcare aids. The financial burden can be extensive. Most patients require frequent visits to medical specialists and must use numerous prescription medications and medical equipment including wheelchairs, walkers, lifts such as the Hoyer for the bedridden, stairway lifts, mechanical chair lifts, and BiPAP machines and must adapt their homes to accommodate this special equipment. Health insurance often does not cover all essential equipment and many other needs. The financial burden often falls on patients and families. “This year I had to move to a house with no stairs. I am lucky I could do so. I hear horrible stories every day from my fellow FSHD friends who can’t even afford lifts to help them get out of bed. People try to help each other — like Go Fund Me — but it’s endless. The thought of someone unable to get out of their bed is bad enough, add to it that they can’t afford anything to help,” one patient reported.

What also remains under reported is the comorbidity of FSHD and clinical depression. Patients report that they live in fear, chronic pain and social isolation while they battle a progressive and debilitating disease with no approved treatment options. “The definition of mental health is the ability to adapt to life’s circumstances. There is no way to adapt to an unpredictably progressive disease like FSHD,” stated a psychologist living with FSHD. Feelings of poor self worth and lack of hope are common. “I’m damaged goods. Who will want me?” stated a 25-year-old living with FSHD.

Patients report living with anxiety about the future and feelings of being a burden to caregivers. “I thought my husband and I would be spending our latter years enjoying life. Yet now my husband has to do so much for me. I am so grateful but sometimes I wonder what he is thinking.”

The inability to smile and move normally often leaves FSHD patients vulnerable to social misunderstanding by others. These further decrease self-esteem and contribute to social isolation.

Time is mobility: patients, family and caregivers are desperate for access to any forms of treatment that could potentially stop disease progression as we are in a race against time.

For those living with FSHD and those who care for them, there is a constant focus on time. As it passes, patients decline. And as an underserved and underrecognized community, many patients feel a loss of hope and debilitating despair. Patients need a treatment to halt or even slow progression.

Disability extends beyond the reported signs and symptoms of FSHD. Patients are often unable to exercise, and many are at risk of poor cardiovascular health. Statins can cause rhabdomyolysis, a dangerous and painful breakdown of muscle, so many patients with FSHD have been told that they cannot be prescribed this medication. Many patients gain weight easily because of lack of mobility, which can lead to more negative health issues and poor quality of life. “My doctor tells me to lose weight, but I only eat 1200 calories per day. Without movement the body just doesn’t lose weight. Carrying around the extra weight makes it harder to move. It’s a vicious cycle. My health is so compromised. I just want to give up.” And other patients are severely underweight. One patient commented, “Having so little muscle, I have a friend who is in his late 40s, weighs 72 pounds and can’t gain weight. How long can someone live like that?”

In the race against time with FSHD, bones are often weakened and atrophied. Bones can break and tendons can tear easily. Falls are a major concern. According to one individual with FSHD, “I’ve had two shoulder surgeries due to full thickness tears bilaterally. This adds to already weakened arms.”

A call to action

The full physical, emotional, and financial burdens of FSHD is vastly under reported. FSHD should be characterized as life limiting, with periods of rapid progression and loss of muscle, strength, and independence. It is a disease that results in chronic pain, anxiety and clinical depression. Current standards of care that work to address individual symptoms are not enough. It is imperative for healthcare providers, health insurance organizations, researchers and regulatory authorities to act with more urgency to seek and support potential treatments to slow or halt the progression of this disease. Time is not on our side. We must act as a collective community to recognize the burden of FSHD on patients and their caregivers, support research into treatments to slow or halt the devastating, burdensome, and life-limiting progression of FSHD. Please join our efforts! Follow, comment and send your ideas!

References

Charis L. Himeda, Charles P. Emerson, Chapter 69 — Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease, Editor(s): Joseph A. Hill, Eric N. Olson, Muscle, Academic Press, 2012, Pages 969–977, ISBN 9780123815101, https://doi.org/10.1016/B978-0-12-381510-1.00069-7. (https://www.sciencedirect.com/science/article/pii/B9780123815101000697)

Keung-kit Chan, Basil T Darras, Chapter 10 — Neonatal Hypotonia, Editor(s): Richard A. Polin, Jeffrey M. Perlman, Neonatology: Questions and Controversies Series: Neurology, W.B. Saunders, 2008, Pages 172–194, ISBN 9781416031574,

https://doi.org/10.1016/B978-1-4160-3157-4.10010-0. (https://www.sciencedirect.com/science/article/pii/B9781416031574100100)

Rabi Tawil, Chapter 35 — Facioscapulohumeral muscular dystrophy, Editor(s): Daniel H. Geschwind, Henry L. Paulson, Christine Klein, Handbook of Clinical Neurology, Elsevier, Volume 148, 2018, Pages 541–548, ISSN 0072–9752, ISBN 9780444640765,

https://doi.org/10.1016/B978-0-444-64076-5.00035-1.

Johnson, N. E., Quinn, C., Eastwood, E., Tawil, R., & Heatwole, C. R. (2012). Patient-identified disease burden in facioscapulohumeral muscular dystrophy. Muscle & nerve, 46(6), 951–953. https://doi.org/10.1002/mus.23529

https://my.clevelandclinic.org/health/diseases/14128-muscular-dystrophy https://rarediseases.org/rare-diseases/facioscapulohumeral-muscular-dystrophy/

Wendy K.M. Liew, Silvère M. van der Maarel, Rabi Tawil, Chapter 32 — Facioscapulohumeral Dystrophy, Editor(s): Basil T. Darras, H. Royden Jones, Monique M. Ryan, Darryl C. De Vivo, Neuromuscular Disorders of Infancy, Childhood, and Adolescence (Second Edition), Academic Press, 2015, Pages 620–630,

A. Hazenberg, N. van Alfen, N.B.M. Voet, H.A.M. Kerstjens, P.J. Wijkstra, Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?, Respiratory Medicine Case Reports, Volume 14, 2015, Pages 37–39, ISSN 2213–0071,

Runte, M., Spiesshoefer, J., Heidbreder, A. et al. Sleep-related breathing disorders in facioscapulohumeral dystrophy. Sleep Breath 23, 899–906 (2019). https://doi.org/10.1007/s11325-019-01843-1

G. W. Padberg, Facioscapulohumeral Disease [thesis], Leiden University 1982

F. H. Tyler and F. E. Stephens, Studies in disorders of muscle. II Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family, Ann Intern Med 1950 Vol. 32 Issue 4 Pages 640–60 http://www.ncbi.nlm.nih.gov/pubmed/15411118

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