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Information on FSHD

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Facioscapulohumeral muscular dystrophy or FSHD is one of the most prevalent 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:

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)

Contacts

For further help with patient issues and resources please contact the FSHD Society:

Attn: June Kinoshita, Sr. Director of Research and Education, for general inquiries
Attn: Jamshid Arjomand, PhD, Chief Science Office, for scientific questions

FSHD Society
75 North Main Street
Suite 1073
Randolph, MA 02368
(781) 301-6060
https://www.fshdsociety.org/contact-us/