Learn About Facioscapulohumeral Muscular Dystrophy (FSHD)

What is the definition of Facioscapulohumeral Muscular Dystrophy (FSHD)?

Facioscapulohumeral muscular dystrophy is a condition that causes muscle weakness and loss of muscle tissue that gets worse over time.

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What are the alternative names for Facioscapulohumeral Muscular Dystrophy (FSHD)?

Landouzy-Dejerine muscular dystrophy

What are the causes of Facioscapulohumeral Muscular Dystrophy (FSHD)?

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.

What are the symptoms of Facioscapulohumeral Muscular Dystrophy (FSHD)?

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. 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 the 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.

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What are the current treatments for Facioscapulohumeral Muscular Dystrophy (FSHD)?

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).
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What is the outlook (prognosis) for Facioscapulohumeral Muscular Dystrophy (FSHD)?

Disability is often minor. Lifespan is most often not affected.

What are the possible complications of Facioscapulohumeral Muscular Dystrophy (FSHD)?

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.)
When should I contact a medical professional for Facioscapulohumeral Muscular Dystrophy (FSHD)?

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.

Superficial anterior muscles
What are the latest Facioscapulohumeral Muscular Dystrophy (FSHD) Clinical Trials?
Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Summary: The primary goal of this proposal is to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the hope is to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use...

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Biomarker Development for Muscular Dystrophies

Summary: Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystr...

What are the Latest Advances for Facioscapulohumeral Muscular Dystrophy (FSHD)?
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Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study.
Who are the sources who wrote this article ?

Published Date: November 09, 2021
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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bharucha-Goebel DX. Muscular dystrophies. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 627.

Sawlani KT, Geiger CD. Proximal, distal, and generalized weakness. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 28.

Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 35.