Society and culture
Media
In the Amazon Video series The Man in the High Castle, Obergruppenführer John Smiths son, Thomas, is diagnosed with Landouzy-Dejerine syndrome. In the biography Stuart: A Life Backwards, the protagonist was affected by muscular dystrophy, presumably FSHD. Patient and research organizations
The FSHD Society (named "FSH Society" until 2019) was founded in 1991 on the East Coast by two individuals with FSHD, Daniel Perez and Stephen Jacobsen. The FSHD Society claims to have advocated for the standardization of the disease name facioscapulohumeral muscular dystrophy and its abbreviation FSHD. The FSHD Society claims to have raised funding for seed grants for FSHD research and co-wrote the MD-CARE Act of 2001, which provided federal funding for all muscular dystrophies. The FSHD Society has grown into the worlds largest grassroots organization advocating for patient education and scientific and medical research for FSHD. One notable spokesperson for FSHD Society has been Max Adler, an actor on the TV series Glee. Friends of FSH Research is a research-oriented nonprofit organization founded in 2004 by Terry and Rick Colella from Kirkland, Washington after their son was diagnosed with FSHD. The FSHD Global Research Foundation was founded in 2007 by Bill Moss in Australia, a former Macquarie Bank executive affected by FSHD. It is currently directed by Mosss daughter. It was named Australian charity of the year for 2017. It is the largest funder of FSHD medical research outside of the United States as of 2018. FSHD EUROPE was founded in 2010.
SCN5A encodes the alpha subunit of the cardiac sodium channel, NaV1.5, responsible for the sodium current INa which depolarises cardiac cells at the start of the action potential. Cardiac sodium channels normally inactivate rapidly, but the mutations involved in LQT3 slow their inactivation leading to a small sustained late sodium current. This continued inward current prolongs the action potential and thereby the QT interval.A large number of mutations have been characterized as leading to or predisposing to LQT3. Calcium has been suggested as a regulator of SCN5A protein, and the effects of calcium on SCN5A may begin to explain the mechanism by which some of these mutations cause LQT3. Furthermore, mutations in SCN5A can cause Brugada syndrome, cardiac conduction disease, and dilated cardiomyopathy. In rare situations, some individuals can have combinations of these diseases. Other subtypes
LQT5 is caused by variants in the KCNE1 gene. This gene is responsible for the potassium channel beta subunit MinK which, in conjunction with the alpha subunit encoded by KCNQ1, is responsible for the potassium current IKs, and variants associated with prolonged QT intervals decrease this current. The same variants in KCNE1 can cause the more severe Jervell and Lange-Nielsen syndrome when two copies are inherited (homozygous inheritance) and the milder LQT5 subtype of Romano–Ward syndrome when a single copy of the variant is inherited (heterozygous inheritance).The LQT6 subtype is caused by variants in the KCNE2 gene.