Facioscapulohumeral Muscular Dystrophy (FSHD)

Diseases of the nervous system Muscular dystrophy

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to RVA Partner, FSHD Global Research Foundation.¹

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 misleading information, please let us know via the Contribute page.

Contributors

This page has been co-developed with RVA Partner, FSHD Global Research Foundation.¹

Emergency Management

There are special considerations for the emergency management of individuals living with facioscapulohumeral muscular dystrophy (FSHD) presenting to emergency departments.

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.¹

If anaesthesia or surgery is required, additional considerations are present for FSHD patients:

A comprehensive pulmonary function test (PFT) is recommended prior to surgery requiring anaesthesia²
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 complications^1,3
Use of certain neuromuscular blockers and muscle relaxants such as those containing the active ingredient suxamethonium/succinylcholine are contraindicated for individuals with muscular dystrophies^1,3
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 applied^1,4

Clinical Care Guidelines

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.⁵

Synonyms

FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy

ORPHA:269

ICD-11: 8C70.3 Facioscapulohumeral muscular dystrophy

Summary

Facioscapulohumeral muscular dystrophy (FSHD) is one of the more common forms of muscular dystrophy.^1,5 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.⁶ 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.² FSHD affects both males and females and can present at any age.¹ 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.² When present during infancy, it is known as infantile FSHD; muscle weakness may be observed from birth and symptoms can be quite severe.²

Facioscapulohumeral muscular dystrophy (FSHD) varies between individuals, and each person’s experience is unique. Please visit FSHD Global Foundation to read the personal stories of people living with FSHD.

Useful Links

FSHD Global Research Foundation Ltd: Clinical Consensus on Diagnosis and Management

FSHD Global Research Foundation Ltd: Resource for Primary Care Doctors

FSHD Global Research Foundation Ltd: Guide for Allied Health Professionals

GeneReviews®: Facioscapulohumeral Muscular Dystrophy

Orphanet: Facioscapulohumeral dystrophy

Human Phenotype Ontology: Facioscapulohumeral Muscular Dystrophy

Symptoms

The symptoms of facioscapulohumeral muscular dystrophy (FSHD) are highly variable.^1,2,5,6 FSHD is primarily characterised by progressive weakness in muscles of the face, shoulders, upper arms, lower legs and hips.⁴Weakness may be observed on only one side of the body in some cases.^2,6

Weakness in the facial muscles are often the first symptoms to be noticed, resulting in difficulty smiling, whistling and closing eyes completely.^2,6Weakness 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.^2,6 Less common symptoms may include poorer reflexes, issues with breathing or lung (respiratory dysfunction), hearing, eyes, and the heart (cardiac), and chronic pain.^2,5

In early onset FSHD or infantile FSHD, the condition can be severe, rapidly progressive and generalised (widespread)² 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.^2,6

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

Cause/Inheritance

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic condition. FSHD is caused by abnormal expression of DUX4 that is toxic to skeletal muscles, but the genetic mechanism is complex.¹ Two genetic subtypes have been identified – FSHD Type 1 (FSHD1) and FSHD Type 2 (FSHD2), which are caused by genetic changes in different genes but all result in DUX4 expression and clinically same condition.

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 (which sits within the D4DZ repeats) from a permissive copy (allele) of Chromosome 4, known as the 4qA haplotype.^2,5,6

Most individuals with FSHD have a genetic change (a deletion) within the D4DZ repeat region, resulting in shorter repeat units. This is known as FSHD Type 1 (FSHD1). 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.^2,5,6

Individuals with FSHD Type 2 (FSHD2) have normal number of D4DZ repeat units. The relaxed structure of DNA at their D4DZ region is caused by a different genetic change, which in most cases is within their Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) gene.^2,5,6SMCHD1 usually binds to the D4DZ repeat DNA and stops expression of DUX4. In FSHD2, the genetic change causes less or no SMCHD1 protein to be produced, which in turn results in toxic DUX4 being expressed. There may also be genetic changes in other genes that can affect the D4DZ DNA structure and cause abnormal DUX4 expression, resulting in FSHD.^1,2

Both FSHD1 and FSHD2 are autosomal dominant conditions.³ Every individual has two copies of each chromosome (one inherited from each parent). Only one affected copy is sufficient to cause FSHD.

More information on this inheritance pattern can be found at Factsheet: Autosomal dominant inheritance (NSW Government Health: Centre for Genetics Education).

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 National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

Diagnosis of facioscapulohumeral muscular dystrophy (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.¹There 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.¹

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.

Treatment

There is currently no curative treatment for facioscapulohumeral muscular dystrophy (FSHD), but there are strategies to assist in the management of symptoms. This involves a multidisciplinary team and could include lifelong care. 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.^1,2

It is best to speak with your medical team to learn more about suitable management strategies for FSHD. Treatment will depend on an individual’s specific symptoms and complications.

Considerations of management strategies are outlined in a physician workshop report on FSHD – Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.⁶

Clinical Care

Healthcare professionals involved in the treatment of facioscapulohumeral muscular dystrophy (FSHD) may include general practitioners (GP), paediatricians, geneticists, neurologists, respiratory physicians, audiologists, ophthalmologists, physiotherapists, exercise physiologists, occupational therapists, orthotists, psychologists, and psychiatrists.¹ 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: Finding Care.

Research

The Australian Neuromuscular Disease Registry (ANMDR) is an Australian-wide registry that collects information about individuals with certain neuromuscular conditions, including Facioscapulohumeral Muscular Dystrophy (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.

Please visit the FSHD Global Research Foundation: Medical Research to find out more information about their wide range of research and their advocacy program aimed at

Please visit Australian Clinical Trials to learn about clinical trials for FSHD in Australia; there may not be any clinical trials currently available. FSHD Global Research Foundation keeps FSHD patients informed of clinical trial opportunities in Australia.

Information regarding clinical trials for FSHD in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

Facioscapulohumeral Muscular Dystrophy (FSHD)
Website: https://fshdglobal.org/
Phone: 02 8007 7037
Email: [email protected]

FSHD Global Research Foundation is a patient advocacy organisation, providing information and support to the community to empower people living with FSHD to be stewards of their own health data, disease journey and whole of body wellness. As well as focussing on therapies specific for FSHD, the Foundation drives muscle regeneration and muscle wellness research to improve the health of muscles for all including other muscular dystrophies, the aging population, and application within sports medicine.

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

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

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information related to facioscapulohumeral muscular dystrophy (FSHD) can be found at:

References

FSHD Global Research Foundation Ltd. Accessed 12 December 2023. https://fshdglobal.org/
Preston MK, Tawil R, Wang LH. Facioscapulohumeral Muscular Dystrophy. 1999. Updated 6 February 2020. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2023. Accessed 19 December 2023. https://www.ncbi.nlm.nih.gov/books/NBK1443
Klingler W, Lehmann-Horn F, Jurkat-Rott K. Complications of anaesthesia in neuromuscular disorders. Neuromuscul. Disord. 2005; 15(3):195-206. https://doi.org/10.1016/j.nmd.2004.10.017
Hudec J, Prokopova T, Kosinova M, Gal R. Anesthesia and Perioperative Management for Surgical Correction of Neuromuscular Scoliosis in Children: A Narrative Review. J. Clin. Med. 2023; 12(11):3651. https://doi.org/10.3390/jcm12113651
Tawil R, Mah JK, Baker S, Wagner KR, Ryan MM, The Sydney Workshop Participants. Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015. Neuromuscul. Disord. 2016; 26(7):462-471. https://doi.org/10.1016/j.nmd.2016.03.007
Facioscapulohumeral dystrophy. Accessed 12 December 2023.https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=269

Page Last Updated

02/04/2024 13:51

Diseases of the nervous system Muscular dystrophy