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Facioscapulohumeral Muscular Dystrophy (FSHD)
What is FSHD?
Facioscapulohumeral muscular dystrophy (pronounced ‘FA-shee-oh SKA-pyoo-loh HYOO-muh-ruhl’), or FSHD, is a rare genetic muscle disorder.[1,2] It causes weakness of the muscles in the face, shoulders, upper arms, and lower legs.[1,2] Around 1 in 8,000 people live with FSHD [2]. It affects females, males and children from all races and ethnicities [2]. The condition may get worse slowly over time and can lead to weakness in other parts of the body.[1,2] It is usually asymmetric, meaning that it spreads differently through each side of the body.[1,3]
In people with FSHD, weakness of the muscles can make it more difficult to move or pick up objects.[4] It can also affect the ability to hold one’s body upright (known as ‘posture’).[4] Eventually, about 1 in 5 people with FSHD will need to use a wheelchair.[1,3] Most people with FSHD live a normal lifespan.[1,3]
What are the symptoms of FSHD?
Symptoms usually start during the teenage years, but FSHD can appear at any age.[5, 6] The severity of FSHD can be very different from one person to another [6].Weakness in the face and shoulder muscles are usually the first symptoms of this condition, followed by weakness in other parts of the body.[5, 6] Muscle weakness may be more serious on one side of the body than the other.[1]
Not everyone with these symptoms will have FSHD. They may be caused by other more common conditions. But if you have any symptoms, it is important to get them checked by your doctor.
The most common symptoms of FSHD include:[1,2,7,8]
- Shoulder blades that ‘wing’ out or stick out from the back (scapular winging)
- Trouble raising arms above shoulder height
- Difficulty whistling, using a straw, or squeezing lips together (puckering the lips)
- Eyes not closing fully during sleep
- Difficulty lifting the front part of the foot (foot drop)
- Weakness in the part of the stomach below the belly button (lower abdomen), also known as ‘pregnant’ belly
- Weakness in fingers and hands
- Loss of chest muscle
- Sinking of the long flat bone in the centre of the chest (breastbone)
- Curved spine
- Severe tiredness
- Body pain
Other symptoms of FSHD may include vision loss, hearing loss and breathing problems.[13,14]
Learn more about Facioscapulohumeral Muscular Dystrophy
What causes FSHD?
FSHD is caused by genetic changes .[1] A gene called the double homeobox protein 4 gene (DUX4) is usually not active in most cells of the body, but in FSHD this gene becomes active.[6,8]
What are the different types of FSHD?
There are two types of FSHD: type 1 (FSHD1) and type 2 (FSHD2). Both types have the same symptoms, but are only different in how they are caused and leading to activation of DUX4 :[1,3,9]
How is FSHD diagnosed?
If your doctor thinks you might have FSHD, they will ask questions about symptoms, previous health problems and your family’s medical history.[2] Your doctor will also do a physical exam and will check the affected muscles.[2] You may need tests to find out if the symptoms are a result of FSHD. They may include:[8,9,10]
- Blood tests to measure specific muscle proteins (known as ‘enzymes’) in the blood. High amounts of these proteins can mean that there is a problem with the muscles.
- Genetic testing (DNA blood tests) to look for mutations that are known to cause FSHD.
- Neurological tests to check how well muscles respond to signals from the brain.
- Image testing such as magnetic resonance imaging (MRI) to see the pattern of damage in the muscles.
- Muscle biopsies, which involves removing a small piece of tissue from a certain muscle to view it under a microscope and confirm a diagnosis.
What does it mean to be a carrier for FSHD?
FSHD is a genetic disorder caused by a change in the genes that are passed on from parents.[1] Either parent with the genetic modifications causing FSHD has a 1 in 2 chance of passing it down to every child.[8, 9]
Sometimes FSHD is not inherited from a parent. In such cases, the disease is caused by a new genetic change.[2,8]
What treatment options are available for FSHD?
At the moment there is no cure for FSHD, so treatments are used to relieve symptoms in order to improve quality of life.[3] There are standards of care and management of FSHD.[15] These are treatments that medical experts approve as the correct level of skill and care for a certain health condition, and that should be widely used by doctors. The main therapies used for FSHD are:
- Physical therapy. Your therapist can plan a mild or low-intensity exercise routine.[8] The program should focus on maintaining muscle strength in areas that are not affected by FSHD, while resting muscles that have weakened.[8]
- Occupational therapy. An occupational therapist can help you continue doing the activities of daily life, such as taking a bath, getting dressed, feeding yourself, writing and performing work responsibilities.[11] This can improve body movement, prevent injury and reduce stress.[12]
- Anti-inflammatory medicines (known as ‘nonsteroidal anti-inflammatories, or NSAIDs). These drugs may help reduce pain and swelling in the muscles, making it more comfortable to move.[1,5]
- Scapular fixation surgery. This is an operation that stabilises the shoulder blades by attaching them to the ribs at the back.[5] It can help you regain more use of your arms.[1,5] However, the results of the surgery are only short-term, and it is not always successful.[1]
- Support devices (known as ‘orthoses’). These can assist and improve movement of the weak parts of the body, such as the shoulders and feet.[1,5]
What is the outlook for a person with FSHD?
There is action taking place to update the international standards of care for FSHD.[16] This will help make sure that people living with FSHD will get the best quality of care they need, no matter where they live.[16]
Currently, there are no approved drugs for FSHD.[3,4] However, researchers are working hard to learn more about FSHD, and are looking for new treatments that improve outcomes for people living with FSHD. There are currently various ongoing clinical trials in FSHD, which can be accessed via clinicaltrials.gov (to find all ongoing FSHD trials type ‘FSHD’ under the field ‘condition or disease’)
Clinical trials (which can also be called ‘research studies’) are designed to look at how safe experimental drugs or procedures (such as new types of surgery) are and how well they work. To find out more about clinical trials please click here.
If you would like to know more about Roche sponsored clinical trials, visit the Roche ForPatients clinical trials page: Link
If you are interested in taking part in a clinical trial, speak to your doctor or visit clinicaltrials.gov and type ‘FSHD’ under the field ‘condition or disease’.
References and further resources
1. Preston MK, Tawil R, Wang LH. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. Facioscapulohumeral Muscular Dystrophy. GeneReviews. 8 Mar 1999 [updated 2020 Feb 6]; Available from: PMID: 20301616
2. FSHD Society. What is FSHD? Learn About Condition &. Accessed 15 Nov 2022. Available from: Link
3. Statland J, Tawil R. Facioscapulohumeral muscular dystrophy. Neurol Clin. 15 May 2014 15;32(3):721-ix. Available from: doi:10.1016/j.ncl.2014.04.003
4. American Academy of Neurology. Summary of evidence-based guideline for patients and their families: Facioscapulohumeral muscular dystrophy. Accessed 15 Nov 2022. Available from: Link
5. Muscular Dystrophy UK. Facioscapulohumeral muscular dystrophy (FSHD). Accessed 16 Nov 2022. Available from: Link
6. MedlinePlus Genetics. Facioscapulohumeral muscular dystrophy. Accessed 15 Nov 2022. Available from: Link
7. Hamel J, Johnson N, Tawil R, et al. Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD). Neurology. 13 Aug 2019;93(12):e1180-e1192. doi:10.1212/WNL.0000000000008123
8. National Organization for Rare Disorders. Facioscapulohumeral Muscular Dystrophy. Accessed 15 Nov 2022. Available from: Link
9. Muscular Dystrophy Association. Facioscapulohumeral Muscular Dystrophy (FSH, FSHD). Accessed 15 Nov 2022. Available from: Link
10. National Institute of Health. How is muscular dystrophy (MD) diagnosed? Accessed 16 Nov 2022. Available from: Link
11. NYU Langone Health. Therapy for Muscular Dystrophy. Accessed 16 Nov 2022. Available from: Link
12. FSHD Society. Living with FSHD. Learn About Condition &. Accessed 15 Nov 2022. Available from: Link
13. Banerji CRS, Zammit PS. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. EMBO Mol Med. 21 June 2021;13(8):e13695. Available from doi:10.15252/emmm.202013695
14. Wagner KR. Facioscapulohumeral Muscular Dystrophies. Continuum (Minneap Minn). Dec 2019;25(6):1662-1681. Available from: doi:10.1212/CON.0000000000000801
15. Tawil R, van der Maarel S, Padberg GW, van Engelen BG. 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1 July 2010;20(7):471-475. Available from: doi:10.1016/j.nmd.2010.04.007
16. FSHD Society. Extraordinary Measures – Updating the standard of care for FSHD. Accessed 16 Dec 2022. Available from: Link
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