Facioscapulohumeral Muscular Dystrophy (FSHD)Symptoms, Doctors, Treatments, Advances & More
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 condition due to a chromosome change. It appears in both men and women. It may develop in a child if either parent carries the gene for the condition. 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 condition gets worse. This interferes with the 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, eye problems, 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 condition 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 people with a high CO2 (hypercarbia).
- Counseling services (psychiatrist, psychologist, social worker).
Clinical Research Center
Jeffrey Statland is a Neurologist practicing medicine in Fairway, Kansas. Dr. Statland is rated as an Elite provider by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Paramyotonia Congenita, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Gastrostomy. Dr. Statland is board certified in American Board Of Psychiatry And Neurology, Neurology - 2011. Dr. Statland is currently accepting new patients.
Kennedy Krieger Institute
Doris Leung is a Neurologist practicing medicine in Baltimore, Maryland. Dr. Leung is rated as an Elite provider by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, and Dysferlinopathy. Dr. Leung is board certified in American Board Of Psychiatry And Neurology. Dr. Leung is currently accepting new patients.
UCLA Health Westwood Neurology
Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as an Elite provider by MediFind in the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD). He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Spinal Muscular Atrophy (SMA), and Tubular Aggregate Myopathy.
The 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 condition who wish to have children.
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric region of chromosome 4q35, resulting in abnormal expression of DUX4p. Type 1 FSHD (FSHD1) is the most common form of the disease and accounts for 95% of cases, while Type 2 FSHD (FSHD2) accounts for ...
Summary: A randomized Phase 2 study to evaluate the efficacy and safety of apitegromab as a monotherapy in participant with FSHD
Published Date: October 27, 2025
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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Genetic and Rare Diseases Information Center (GARD). Facioscapulohumeral muscular dystrophy. rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy. Updated December 2025. Accessed January 24, 2026.
Knox RN. Facioscapulohumeral muscular dystrophy. Continuum (Minneap Minn). 2025;31(5):1329-1343. PMID: 41037169 pubmed.ncbi.nlm.nih.gov/41037169/.
Manzur AY. Muscular dystrophies. In: Kliegman RM, St Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 649.
Muscular Dystrophy Association website. Facioscapulohumeral muscular dystrophy ((FSH, FSHD). www.mda.org/disease/facioscapulohumeral-muscular-dystrophy. Accessed December 22, 2025.
Selcen D. Muscle diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 389.