Learn About Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy is a condition that causes muscle weakness and loss of muscle tissue that gets worse over time.
Landouzy-Dejerine muscular dystrophy
Facioscapulohumeral muscular dystrophy is a genetic disease due to a chromosome mutation. It appears in both men and women. It may develop in a child if either parent carries the gene for the disorder. In 10% to 30% of cases, the parents do not carry the gene.
Facioscapulohumeral muscular dystrophy is one of the most common forms of muscle dystrophy affecting 1 in 15,000 to 1 in 20,000 adults in the United States. It affects men and women equally.
Men often have more symptoms than women.
Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can also affect muscles around the pelvis, hips, and lower leg.
Symptoms can appear soon after birth (infantile form), but often they do not appear until age 10 to 26 years. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop.
Symptoms are most often mild and very slowly become worse. Muscle weakness of the face is common, and may include:
- Eyelid drooping
- Inability to whistle due to weakness of the cheek muscles
- Decreased facial expression due to weakness of facial muscles
- Depressed or angry facial expression
- Difficulty pronouncing words
- Difficulty reaching above the shoulder level
Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. The person has difficulty raising their arms because of shoulder and arm muscle weakness.
Weakness of the lower legs is possible as the disorder gets worse. This interferes with ability to play sports because of decreased strength and poor balance. The weakness can be severe enough to interfere with walking. A small percentage of people use a wheelchair.
Chronic pain is present in 50% to 80% of people with this type of muscular dystrophy.
Hearing loss and abnormal heart rhythms may occur, but are rare.
Presently, facioscapulohumeral muscular dystrophy remains incurable. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse.
Physical therapy may help maintain muscle strength. Other possible treatments include:
- Occupational therapy to help improve activities of daily living.
- Oral albuterol to increase muscle mass (but not strength).
- Speech therapy.
- Surgery to fix a winged scapula.
- Walking aids and foot support devices if there is ankle weakness.
- BiPAP to help breathing. Oxygen alone should be avoided in patients with a high CO2 (hypercarbia).
- Counseling services (psychiatrist, psychologist, social worker).
Kennedy Krieger Institute
Dr. Leung obtained her undergraduate degree in biochemical sciences from Harvard University. While attending medical school at Duke University, she completed a year-long research fellowship studying genetic markers of late-onset Alzheimer’s disease at the National Institute on Aging as part of the NIH Clinical Research Training Program. She completed her neurology residency and clinical neurophysiology fellowship at Stanford University Medical Center, and is currently a Ph.D. candidate in the graduate training program in clinical investigation at the Johns Hopkins Bloomberg School of Public Health. Dr. Leung joined the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute as a translational research fellow in 2010 and was appointed to the faculty in 2014. Her clinic specializes in electromyography and the diagnosis and treatment of hereditary muscle diseases. Dr. Leung’s research focuses on the development of imaging biomarkers and outcome measures for muscle diseases. She is the principal investigator for a longitudinal cohort study of whole-body MRI in facioscapulohumeral muscular dystrophy. Dr. Leung is also a site principal investigator for the Ionis-DMPKRx trial, a phase Ib/IIa clinical trial of a novel RNA-based therapy for myotonic muscular dystrophy. Dr. Leung is rated as an Elite provider by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). Her top areas of expertise are Facioscapulohumeral Muscular Dystrophy (FSHD), Dysferlinopathy, Limb-Girdle Muscular Dystrophy Type 2I, and Limb-Girdle Muscular Dystrophy.
Kansas University Physicians Inc
Jeffrey Statland is a Neurologist in Kansas City, Kansas. Dr. Statland is rated as an Elite provider by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). His top areas of expertise are Facioscapulohumeral Muscular Dystrophy (FSHD), Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Paramyotonia Congenita, Primary Lateral Sclerosis, and Gastrostomy. Dr. Statland is currently accepting new patients.
Silvere Van Der Maarel practices in Leiden, Netherlands. Van Der Maarel is rated as an Elite expert by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). Their top areas of expertise are Facioscapulohumeral Muscular Dystrophy (FSHD), ICF Syndrome, Myasthenia Gravis, and Bosma Arhinia Microphthalmia Syndrome.
Disability is often minor. Lifespan is most often not affected.
Complications may include:
- Decreased mobility.
- Decreased ability to care for self.
- Deformities of the face and shoulders.
- Hearing loss.
- Vision loss (rare).
- Respiratory insufficiency. (Be sure to talk to your health care provider before having general anesthesia.)
Contact your provider if symptoms of this condition develop.
Genetic counseling is recommended for couples with a family history of this disease who wish to have children.
Summary: The goal of this clinical trial is to learn how safe and tolerable EPI-321 is and whether there may be early signs it is working in male or female adult (18 to 75 years) participants with facioscapulohumeral muscular dystrophy (FSHD) Type 1 condition. The main questions it aims to answer are: How safe is EPI-321 and how well can people handle it over time? How does EPI-321 interact with its target...
Summary: The goal of this clinical trial is to learn about how an umbilical cord lining-derived stem cell product (ULSC) performs when treating Facioscapulohumeral Muscular Dystrophy (FSHD) 1 or 2. It will assess safety and preliminary efficacy in relieving symptoms of FSHD with ULSC administered in two intravenous (IV) doses of 100 million cells per dose. The main questions that this study plans to answer...
Published Date: December 31, 2023
Published By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Mul K. Facioscapulohumeral muscular dystrophy. Continuum (Minneap Minn). 2022;28(6):1735-1751. PMID: 36537978 pubmed.ncbi.nlm.nih.gov/36537978/.
Muscular Dystrophy Association website. Facioscapulohumeral muscular dystrophy. www.mda.org/disease/facioscapulohumeral-muscular-dystrophy. Accessed March 13, 2024.
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