Facioscapulohumeral muscular dystrophy (FSHD) is one of the more common forms of muscular dystrophy.¹ It is a genetic condition that causes muscle weakness and muscles loss (atrophy/muscle wasting). FSHD is most commonly associated with muscle weakness of the face, shoulder and upper arms, but can also affect lower limb muscles.² Symptoms can vary widely between individuals. The condition is slowly progressive, and in some cases may eventually affect the ability to walk, resulting in the need for a wheelchair.³ FSHD affects both males and females and can present at any age. Symptoms most typically develop within the second and third decades of life but are sometimes observed from early childhood or only appear in late adulthood.³ When present during infancy, it is known as infantile FSHD; muscle weakness may be observed from birth and symptoms can be quite severe.

Synonyms: FSH dystrophy, FSHD, Facioscapulohumeral muscular dystrophy, Facioscapulohumeral myopathy, Landouzy-Dejerine dystrophy, Landouzy-Dejerine myopathy.²

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:269 Facioscapulohumeral dystrophy

ICD-11: 8C70.3 Facioscapulohumeral muscular dystrophy

The symptoms of FSHD are highly variable.^1-3 FSHD is primarily characterised by progressive weakness in muscles of the face, shoulders, upper arms, lower legs and hips.⁴ Weakness may be observed on only one side of the body in some cases.^2,3

Weakness in the facial muscles are often the first symptoms to be noticed, resulting in difficulty smiling, whistling and closing eyes completely.^2,3 Weakness in the shoulders, causing difficulties in raising the arms, shoulder blades sticking out (scapular winging), and sloping shoulders, is often reported. Lower leg muscles may also be affected, and this can progress to difficulty in walking and requiring a wheelchair. Less common symptoms may include poorer reflexes, issues with breathing or lung (respiratory dysfunction), hearing, eyes, and the heart (cardiac), and chronic pain.^1,3

In early onset FSHD or infantile FSHD, the condition can be severe, rapidly progressive and generalised (widespread) whilst for the adult onset FSHD, disease progression is usually slow and there may be times when the condition is stable before there is rapid deterioration.^2,3

Please speak to your medical team to learn more about the symptoms of FSHD.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

FSHD is a genetic condition. It is caused by abnormal expression of DUX4 protein that is toxic to skeletal muscles, but the genetic mechanism is complex. Every individual has a D4DZ repeat region in their DNA on Chromosome 4, and the structure of the DNA at that region is typically tightly packed together (condensed). In individuals with FSHD, the structure of the DNA in the D4DZ region is relaxed (open), which allows the abnormal expression of DUX4 gene (which sits within the D4DZ repeats) from a permissive copy (allele) of Chromosome 4, known as the 4qA haplotype.^1-3

Two genetic subtypes have been identified – FSHD Type 1 (FSHD1) and FSHD Type 2 (FSHD2), which are caused by disease-causing genetic changes (variants) in different genes; but both result in toxic DUX4 protein expression and the same clinical symptoms.

FSHD1 is more common, and is caused by deletions within the D4DZ repeat region, resulting in shorter repeat units. There is normally 11-100 D4DZ repeat units in that region but individuals with FSHD1 have only 1-10 D4DZ units. This decrease in repeat units result in the relaxed structure of the DNA and abnormal expression of DUX4 gene.^1-3

Individuals with FSHD2 have normal number of D4DZ repeat units. The relaxed structure of DNA at their D4DZ region is caused by a different genetic variant, which in most cases is within their Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) gene.^1-3 SMCHD1 usually binds to the D4DZ repeat DNA and stops expression of DUX4. In FSHD2, the genetic variants causes less or no SMCHD1 protein to be produced, which in turn results in toxic DUX4 being expressed. There may also be genetic variants in other genes that can affect the D4DZ DNA structure and cause abnormal DUX4 protein expression, resulting in FSHD.³

All individuals have two copies (alleles) of each of the affected genes – one on each chromosome that is inherited from each parent. Both FSHD1 and FSHD2 are autosomal dominant conditions, which means that a genetic variant in just one of the gene copies can result in FSHD.⁵ More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of FSHD may be made through clinical examination to assess muscle weakness, neurologic examination to rule out other causes of the muscle weakness and molecular genetic testing to look for genetic changes that have been associated with FSHD. There may also be further tests performed to assess the extent of muscle damage, including MRI imaging which can also be useful in monitoring progression of disease.

Further information about clinical and genetic diagnosis of FSHD can be found from a physician workshop report on FSHD – Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.

Please speak to your medical team to learn more about the available diagnostic pathways for FSHD.

There is currently no curative treatment for FSHD. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. Management strategies may include physical and occupational therapy, speech therapy and pain management. In some cases, surgery to fix the scapula may improve range of motion in the shoulder or arms, however this may not be suitable for everyone.

Information on relevant equipment and assistive technology can be found at The Loop – Your Neuromuscular Resource Hub: Equipment.

It is recommended that in addition to assessing muscle strength and function, individuals with FSHD are also evaluated and monitored for hearing, eye issues, and breathing (respiratory) function and heart (cardiac) function.³

Considerations of management strategies are outlined in a physician workshop report on FSHD – Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of FSHD may include general practitioners (GP), paediatricians, geneticists, neurologists, respiratory physicians, audiologists, ophthalmologists, physiotherapists, exercise physiologists, occupational therapists, orthotists, psychologists, and psychiatrists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Further information can be found at FSHD Global Research Foundation: Managing Your Health.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy is a summary of proposed guidelines published by the American Academy of Neurology (AAN) in 2015.

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015 is a report from a workshop involving physicians from five different countries, including Australia, who had convened to discuss and expand on the 2015 AAN guidelines.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with FSHD at emergency departments/services:

• FSHD can cause weakness in respiratory muscles – this may affect breathing in some individuals with FSHD and may lead to issues with exhaling carbon dioxide. A bi-level positive airway pressure (BiPAP) machine may be required to administer oxygen.
• If anaesthesia or surgery is required, additional considerations are present for FSHD patients:
  • a comprehensive pulmonary function test (PFT) has been recommended prior to surgery requiring anaesthesia³
  • individuals with FSHD should be monitored carefully during and after surgery. There is the possibility of life-threatening anaesthesia complications with neuromuscular conditions, such as adverse effects on skeletal, cardiac and smooth muscle tissues, leading to respiratory distress and cardiac complications⁵
  • use of certain neuromuscular blockers and muscle relaxant have been contraindicated for individuals with muscular dystrophies⁵
  • individuals with FSHD may have skeletal deformities such as curvature of the spine (scoliosis), which can affect their response to anaesthesia as well as how the anaesthetic is able to be applied⁴

The Australian Neuromuscular Disease Registry (ANMDR) is an Australian-wide registry that collects information about individuals with certain neuromuscular conditions, including FSHD. The registry collects important medical information from adult and child patients across the country to improve the understanding of neuromuscular disease and accelerate the development of new therapies. It is run through the Murdoch Children’s Research Institute (MCRI) in Melbourne by the ANMDR team, consisting of medical professionals, neuromuscular research staff, and support group representatives.

FSHD Global Research Foundation’s FSHD Medical Education Portal provides education, professional services and resources about FSHD.

FSHD Global Research Foundation: Medical Research has information about research into FSHD.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

FSHD Global Research Foundation
Website: https://fshdglobal.org/

FSHD Global Research Foundation is Australia’s peak body for Facioscapulohumeral Dystrophy (FSHD), operating globally with the world’s leading researchers, biotech’s, and communities to find a cure for FSHD, and improve muscle regeneration, function and wellness.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

FSHD varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information related to FSHD can be found at:

• FSHD Global Research Foundation: Guide for living with FSHD
• The Loop – Your Neuromuscular Resource Hub: Facioscapulohumeral Muscular Dystrophy (FSHD)
• Australian Neuromuscular Disease Registry: FSHD
• RARE Portal: Muscular Dystrophy
• Genetic and Rare Diseases (GARD) Information Center: Facioscapulohumeral dystrophy
• National Organization for Rare Disorders (NORD): Facioscapulohumeral Muscular Dystrophy

• FSHD Global Research Foundation: Clinical Consensus on Diagnosis and Management
• FSHD Global Research Foundation: Resource for Primary Care Doctors
• FSHD Global Research Foundation: Guide for Allied Health Professionals
• GeneReviews^®: Facioscapulohumeral Muscular Dystrophy
• Human Phenotype Ontology: Facioscapulohumeral Muscular Dystrophy
• Online Mendelian Inheritance in Man, OMIM^®: #158900 Facioscapulohumeral muscular dystrophy 1; FSHD1
• Online Mendelian Inheritance in Man, OMIM^®: #158901 Facioscapulohumeral muscular dystrophy 2, DIGENIC; FSHD2
• Online Mendelian Inheritance in Man, OMIM^®: #619477 – Facioscapulohumeral muscular dystrophy 3, DIGENIC; FSHD3
• Online Mendelian Inheritance in Man, OMIM^®: #619478 – Facioscapulohumeral muscular dystrophy 4, DIGENIC; FSHD4

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with FSHD Global Research Foundation.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.