BlueCross BlueShield of Tennessee Medical Policy Manual

Genetic Testing for Facioscapulohumeral Muscular Dystrophy

Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018


Facioscapulohumeral muscular dystrophy (FSHD) is autosomal dominant and the third most common muscular dystrophy and involves progressive weakness and wasting of the facial muscles (facio), and shoulder and upper arm (scapulohumeral) muscles. The weakness is often most evident in the muscles of the face, resulting in difficulty smiling and whistling, and reduced facial expression. The weakness in the shoulder muscles causes the scapula to protrude from the back (“winging of the scapula”). The muscles are typically affected asymmetrically, and with progression, the lower extremities, both proximal and distal, become involved.

The severity of the disease is highly variable, ranging from mildly to severely affected, with approximately 20% of individuals eventually requiring a wheelchair. Non-muscular manifestations include retinal vascular abnormalities which can result in significant loss of vision; however, only about 1% of individuals with FSHD experience visual acuity loss.  Most people with FSHD will eventually develop high-frequency hearing loss, which is usually not noticeable, and only detected by audiogram. FSHD usually presents between the ages of 6 and 20 years, and life expectancy is not shortened. It is estimated that 4-5 people per 100,000 have FSHD. FSHD tends to progress slowly and affects males and females equally. There is currently no treatment or prevention of symptoms of FSHD. Clinical management is directed at surveillance to identify possible FSHD-related complications and to improve quality of life (e.g., assist devices, physical therapy, orthoses to improve mobility and prevent falls).

The most common form of FSHD (95%) is designated FSHD1, and the remaining 5% of individuals who don’t have FSHD1 are designated as FSHD2, which is clinically indistinguishable from FSHD1. If FSHMD1A testing is negative, testing for FSHD2, including D4Z4 methylation analysis and testing of the SMCHD1 gene should be considered.




There is a lack of well-designed evidence-based studies in peer review journals to determine whether the genetic testing for facioscapulohumeral muscular dystrophy in individuals with no clinical signs of the disease would change the individual’s medical management. Further studies are needed to establish the clinical utility of these tests and the long-term follow-up of the individuals.


American Academy of Neurology; American Association of Neuromuscular and Electrodiagnostic Medicine. (2015, July; reaffirmed January 2018). Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Retrieved February 11, 2019 from

BlueCross BlueShield Association. Evidence Positioning System. (3:2020). Genetic testing for facioscapulohumeral muscular dystrophy (2.04.105). Retrieved November 6, 2020 from (13 articles and/or guidelines reviewed)

Pastorello, E., Cao, M., & Trevisan, C. P. (2012). Atypical onset in a series of 122 cases with facioscapulohumeral muscular dystrophy. Clinical Neurology and Neurosurgery, 114 (3), 230-234. (Level 4 evidence)

Ricci, G., Zatz, M., & Tupler, R. (2014). Facioscapulohumeral muscular dystrophy: more complex than it appears. Current Molecular Medicine, 2014. Abstract retrieved May 21, 2015 from PubMed database.

Statland, J., Donlin-Smith, C. M., Tapscott, S. J., van der Maarel, S., & Tawil, R. (2014). Multiplex screen of serum biomarkers in facioscapulohumeral muscular dystrophy. Journal of Neuromuscular Disease, 1, (2), 181-190. Abstract retrieved May 21, 2015 from PubMed database.

Winston, J., Duerden, L., Mort, M., Frayling, I., Rogers, M., & Upadhyaya, M. (2015). Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics, 23, 67-71. (Level 5 evidence)




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