Genetic Basis of FSHD2 Discovered

A new study ties mutations in SMCHD1 to facioscapulohumeral muscular dystrophy and implicates epigenetic mechanisms in disease pathogenesis.

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy, with a prevalence of about 1:15,000 to 1:20,000 (according to the Richard Fields Center). It is an autosomal dominant disorder characterized by a distinctive pattern of weakness starting with facial, periscapular, and humeral muscles and typically sparing the deltoids. FSHD types 1 and 2 are clinically indistinguishable but have different genetic bases. FSHD1, which accounts for 95% of cases, results from the deletion of a critical number of repetitive DNA sequences, known as D4Z4 repeats, on chromosome 4, but only in patients with an allele that possesses a polyadenylation sequence on chromosome 4 (the so-called permissive A-allele). Contract…

Reviewing Author

Michael Benatar, MD, MS, PhD

Disclosures

Grant / Research supportNIH NeuroBioBank; ALS Association; NIH/National Institute of Neurological Disorders and Stroke; NIH/National Center for Advancing Translational Sciences; FDA; Department of Defense

Editorial boardsCochrane Collaboration

Leadership positions in professional societiesMuscle Study Group Executive Committee

Michael Benatar, MD, MS, PhD

Disclosures

Editorial boardsCochrane Collaboration

Leadership positions in professional societiesMuscle Study Group Executive Committee