Information on FSHD

Facioscapulohumeral muscular dystrophy or FSHD is one of the most prevalent forms of muscular dystrophy. It affects both men and women, with symptoms typically arising during adulthood but also more rarely during childhood. FSHD is one of the nine primary types of muscular dystrophy –  genetic, hereditary muscle diseases that cause progressive muscle weakness. FSHD is also broadly characterized as a neuromuscular disease (NMD), as muscular dystrophy is a subset of NMD. Muscular dystrophies are alike in that they cause progressive skeletal muscle weakness, defects in the biochemical, physical and structural components of muscle, and the death of muscle cells and tissue. However, they can differ in the severity of disease, the distribution of which muscles are typically affected, and the genetic causes.

The FSHD Society maintains an website with extensive information on FSHD, including:

• What is FSHD? (information on symptoms, diagnosis, and genetic testing)
• Living with FSHD (patient resources)
• FSHD University (with a calendar of upcoming events)
• Clinical Studies and Trials 

The OMIM (Online Mendelian Inheritance in Man) database also provides curated information on FSHD:

• FSHD1 ( autosomal–dominant inheritance, associated with contracted permissive D4Z4 repeat array)  
• FSHD2 (digenic inheritance, associated with permissive D4Z4 array and heterozygous mutations in SMCHD1)