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Facioscapulohumeral muscular dystrophy

Medical Professionals

Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find the Muscular dystrophy article more useful, or one of our other health articles.

Synonyms: Landouzy-Dejerine muscular dystrophy, facioscapuloperoneal muscular dystrophy

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What is facioscapulohumeral muscular dystrophy?1

Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Both FSHD types often show asymmetrical and progressive muscle weakness affecting initially the face, shoulder and arms followed by the distal then proximal lower extremities.

Genetically, FSHD is associated with a macrosatellite array consisting of tandem D4Z4 repeats at the distal end of chromosome region 4q35. This array is typically highly compacted, limiting transcription but in FSHD there is a ‘decompaction,’ resulting in a more open state.

  • In FSHD1 (95% of cases), this occurs due to a contraction of the D4Z4 repeats to between 1 to 10 copies.

  • In FSHD2 (5% of cases), the region opens up due to mutations in epigenetic modifiers such as SMCHD1 and DNMT3B.

How common is facioscapulohumeral muscular dystrophy? (Epidemiology)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting approximately 1 in 8000 individuals.1

Gene penetrance in women is believed to be lower than in men, and, on average, women are diagnosed at an older age and are often less severely affected.2

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Symptoms of facioscapulohumeral muscular dystrophy (presentation)1

FHSD is characterised by progressive, asymmetrical muscle atrophy that typically affects the face, upper limb and shoulder skeletal muscles and later, the lower limbs.

Symptoms can emerge anywhere from childhood to adulthood, but typically manifests in the 2nd or 3rd decade of life. Disease severity is very variable as roughly 20% of mutation carriers are asymptomatic, while 20% eventually require a wheelchair.

In a rare, early-onset form of FSHD in which symptoms emerge by 10 years of age, severity is higher with most showing childhood facial weakness and more frequent wheelchair dependence.3

Both FSHD types 1 and 2 are clinically similar, characterised by:4

  • Often marked side to side asymmetry. Muscle pain is frequent and often appears at an early stage.

  • Facial weakness seen as inability to squeeze the eyes shut or furrow the brow, a transverse smile, or flattening when puckering the lips.

  • Shoulder weakness often with scapular winging and flattening of the clavicles.

  • Arm weakness including the biceps and triceps often with forearm sparing.

  • Asymmetric abdominal weakness.

  • Usually distal lower extremity weakness before proximal, starting with a foot drop.

Associated non-skeletal muscle manifestations include high-frequency hearing loss as well as retinal telangiectasias, both of which are rarely symptomatic.5

Differential diagnosis

Asymmetry and selective muscle group involvement help to distinguish this condition from other muscular dystrophies. Extraocular muscles, bulbar muscles, deltoids and respiratory muscles are usually spared.

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  • Elevated serum creatine kinase (CK).

  • Imaging studies show a selective destructive process involving the anterior compartment muscles of the leg.

  • Gene testing: one of the genes has been localised to chromosome band 4q35. Molecular diagnosis has 98% accuracy.6

  • Electrodiagnostic studies may reveal myopathic potentials.

  • Muscle biopsy is important to rule out other possible differential diagnoses if genetic testing is negative.

Prenatal diagnosis

Molecular diagnostic techniques are available for prenatal diagnosis.

Management of facioscapulohumeral muscular dystrophy

  • No definitive therapy is available.7 However, defining the genetic and molecular defects offers the potential for therapeutic intervention in the future.8 9

  • There is no strong evidence of significant benefit with operative scapular fixation. Any benefit as shown in some observational studies has to be balanced against postoperative immobilisation, need for physiotherapy and potential complications.10

  • There is no evidence from randomised controlled trials to support any drug treatment.11 However, both strength training and albuterol (equivalent to salbutamol) appear safe with limited benefit on muscle strength and volume. The consequences of long-term use are currently unknown.12

  • The effectiveness of simple analgesia combined with anti-inflammatory agents for muscle pain is variable.

  • A reported association with heart rhythm disorders in some cases suggests that a cardiovascular review every few years (looking particularly for ECG abnormalities, hypertension and heart muscle thickening) is important.

  • A periodic eye check may also be appropriate. If troublesome inflammation of the eyes occurs as a result of them remaining open at night, surgery to bring the eyelids closer can be offered if artificial tears alone are insufficient. Research on involvement of the retina may give clues to the pathogenesis of the muscle dysfunction.13

  • Driving licences, especially LGV or PCV, may be issued for a limited duration, with renewal subject to a satisfactory medical examination.

Complications of facioscapulohumeral muscular dystrophy

  • Coats' syndrome: retinal vasculopathy with telangiectasia, exudation and retinal detachment. Seen in 49-75% of affected individuals. If detected early, retinal photocoagulation may prevent serious consequences.14

  • Hearing loss: sensorineural deafness, which may be unilateral or bilateral.14

  • Mental impairment and epilepsy: either or both may be seen in those patients with early onset.

  • Hypertension.

  • Cardiac complications: a single case report found ECG abnormalities - eg, bundle branch block, as well as left ventricular myocardial thickening.15 16


  • As many as 20% of patients eventually become wheelchair-bound.17

  • However, up to one third of patients remain unaware of symptoms at least into old age but may have subtle detectable clinical signs. The majority of affected people come between these two extremes.

  • Males tend to develop symptoms earlier and more severely at a given age than females. By age 30 virtually all males with FSHD exhibit symptoms but only two thirds of females do.

  • Life expectancy is not affected, except perhaps in the most severe cases with greatly impaired mobility and consequent greater risk of chest infections.

Further reading and references

  1. Cohen J, DeSimone A, Lek M, et al; Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy. Trends Mol Med. 2021 Feb;27(2):123-137. doi: 10.1016/j.molmed.2020.09.008. Epub 2020 Oct 19.
  2. Statland JM, Tawil R; Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. doi: 10.1212/CON.0000000000000399.
  3. Chen TH, Wu YZ, Tseng YH; Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review. Int J Mol Sci. 2020 Oct 21;21(20):7783. doi: 10.3390/ijms21207783.
  4. Statland J, Tawil R; Facioscapulohumeral muscular dystrophy. Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15.
  5. Tawil R, Van Der Maarel SM; Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Jul;34(1):1-15.
  6. Upadhyaya M, Cooper DN; Molecular diagnosis of facioscapulohumeral muscular dystrophy. Expert Rev Mol Diagn. 2002 Mar;2(2):160-71.
  7. Tawil R; Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008 Oct;5(4):601-6.
  8. Sahenk Z, Mendell JR; The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches. Curr Rheumatol Rep. 2011 Jun;13(3):199-207.
  9. Padberg GW, van Engelen BG; Facioscapulohumeral muscular dystrophy. Curr Opin Neurol. 2009 Oct;22(5):539-42.
  10. Orrell RW, Copeland S, Rose MR; Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev. 2010 Jan 20;(1):CD003278. doi: 10.1002/14651858.CD003278.pub2.
  11. Rose MR, Tawil R; Drug treatment for facioscapulohumeral muscular dystrophy. Cochrane Database Syst Rev. 2004;(2):CD002276.
  12. van der Kooi EL, Vogels OJ, van Asseldonk RJ, et al; Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004 Aug 24;63(4):702-8.
  13. Fitzsimons RB; Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord. 2011 Apr;21(4):263-71. Epub 2011 Mar 4.
  14. Fascioscapulohumeral muscular dystrophy 1A, FSHD1; Online Mendelian Inheritance in Man (OMIM)
  15. Finsterer J, Stollberger C, Meng G; Cardiac involvement in facioscapulohumeral muscular dystrophy. Cardiology. 2005;103(2):81-3. Epub 2004 Nov 12.
  16. Hermans MC, Pinto YM, Merkies IS, et al; Hereditary muscular dystrophies and the heart. Neuromuscul Disord. 2010 Aug;20(8):479-92.
  17. Lemmers RJLF, Miller DG, van der Maarel SM; Facioscapulohumeral Muscular Dystrophy. Updated march 2014.

Article history

The information on this page is written and peer reviewed by qualified clinicians.

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