Facioscapulohumeral Muscular Dystrophy

Genetic Transmission by Grace Zhang

FSHD stands for Facioscapulohumeral Muscular Dystrophy. It affects a region consisting of 11 to 100 repeated segments in the long arm of chromosome 4. The hypermethylation of the D4Z4 region, a chromosomal tandem repeat at the end of chromosome 4, normally keeps a gene called DUX4 silenced. When it is active, it destroys cells, which leads to muscle weakness.

In FSHD 1, the D4Z4 region is shortened, so it contains 1-10 repeats instead of 11-100 repeats. In FSHD 2, the SMCHD1 gene provides instructions for making proteins that normally hypermethylates the D4Z4 region, but it is mutated, causing more hypermethylation.

It is autosomal dominant.

Works Cited:

"About FSHD." , Facioscapulohumeral Muscular Dystrophy, FSH Muscular Dystrophy, FSHMD 1A, FSHMD 1B, Infantile FSHD. Web. 12 Jan. 2015.

"Facioscapulohumeral Muscular Dystrophy." Genetics Home Reference. Web. 12 Jan. 2015.

"Facioscapulohumeral Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 12 Jan. 2015.

“Google Images." Google Images. Web. 19 Jan. 2015.

Symptoms/Diagnosis/Frequency by Brianna Brown

The most common symptoms seen within a person diagnosed with FSHD are weakened muscles in the shoulders, face, legs. The weakness in the shoulders may cause it to be extremely difficult to lift one's arm further leading to increased abdominal muscles and the exaggerated curve of one's lower back. (This is due to the over compensation of limited mobility causing the lower back muscles to become extremely tight.) The weakness within the face causes the eyes to not fully close further leading to other eye problems such as dry eye. The mouth is mainly affected as it becomes difficult to utilize straws or whistle and turn up the corners of the mouth when smiling. Facial expressions became difficult to inflect and words may seem slurred or stuttered. The weakness within the legs may progress over time increasing the risk in falling and difficulty in walking. Very few people progress to the point of needing a wheelchair. Other symptoms include hearing loss, extreme sensitivity to the retinas, and possible cardiac/repertory issues.

Some tests that can diagnose FSHD are Creatine Kinase testing, DNA testing, or a Muscle Biopsy. (Creatine phosphokinase (CPK) is an enzyme found within the brain, heart, and skeletal tissue. When CPK levels are high, it indicates that muscles have been damaged or injured.)

This disorder is seen in about 1 out of every 20,000 people. (95% FSHD 1 and 5% FSHD 2)

"Facioscapulohumeral Muscular Dystrophy." Genetics Home Reference. Web. 12 Jan. 2015.

"Facioscapulohumeral Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 12 Jan. 2015.

"Our Story - FSH Society." FSH Society. Web. 19 Jan. 2015.

Life Expectancy and Treatments by Sophie Rittenberry

When given the correct treatment, FSHD patients have a normal human lifespan.

Currently, while there is not a concrete cure, there are many treatments that patients can go through to alleviate the individual symptoms. Many patients go to physical therapists or muscle disease clinics. Swimming is said to be especially helpful for preserving the flexibility of the patients. Physical therapy helps to maintain muscle strength. Other treatments include Oral Albuterol (a medicine which opens up bronchial tubes, or air passages, in the lungs), which increases muscle mass, but not strength; speech therapy; surgery to fix winged scapulae; and walking aides and foot support devices. These treatments are given to control symptoms and improve quality of life.

Works Cited:

"Albuterol (Oral Route)." Description and Brand Names. Web. 19 Jan. 2015.

"Facioscapulohumeral Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 19 Jan. 2015.

"Muscular Dystrophy Treatment." Health Tips. 10 June 2012. Web. 19 Jan. 2015.

"Progressive Muscular Dystrophy."Progressive Muscular Dystrophy. Web. 19 Jan. 2015.

Interesting Facts by Aurora Hawkins

  • The two strands of facioscapulohumeral muscular dystrophy have the same symptoms but are defined by their genetic difference.

  • Only 5% are among the FSHD strand 2.

  • Men show more symptoms than women.

  • Onset can occur as late as the age of 40.

  • Mutations that cause FSHD2, can increase the severity of the disease in people with FSHD1.

  • Muscle tissue can be replaced with fat and excessive scar tissue, making the muscles appears larger than normal.

  • One of the many symptoms of FSHD, is the inability to whistle.

Works Cited:

"Diseases & Conditions." Cleveland Clinic. Web. 19 Jan. 2015.

"Facioscapulohumeral Muscular Dystrophy."Genetics Home Reference. Web. 19 Jan. 2015.

"Symptoms - FSH Society." FSH Society. N.p., n.d. Web. 18 Jan. 2015.

Story Time! (Brianna)

I was diagnosed with FSHD 1 in early October of 2012. For those who don't know, FSHD is measured on a scale of 1-12 in severity. When I had my DNA testing done, the doctor was sure that with the strength I had, I would place somewhere between the 2-4 range. She was absolutely wrong. I ended up placing a high 8 (almost 9). I think the most fun I had in those six agonizing hours was the mix of complete shock and confusion on the doctors face (they didn't exactly offer me carton network or anything.) Life with FSHD hasn't affected me really other than the fact that most people think I hate them the first time we meet (facial expressions are not my strong suit) but on the bright side, I'm good at convincing people that I regularly visit my dentist. (Whoohoo.) Since I'm an extremely stubborn person, I'm not usually one to ask for help, but over the past two years, I've had to place my pride on the shelf. Surprisingly this has actually really helped me with my people skills (I mean hey, I still am just a big messy ball of anxiety, but if I can't reach something I can at least ask for that.) Other than those things, FSHD really hasn't effected my life (It kind of just tied into my personality.) I was often told that I wouldn't be able to do something, and I am proud to say that the biggest victory in my life was proving every single one those people wrong (and later rubbing it in their faces.)

So in recap:


-I sleep with my eyes open, so sleepovers as a child were HILARIOUS.

-I can easily get out of P.E. if I really wanted to.

-It's a good conversation starter.

-Proving people wrong is awesome and watching them slowly melt in embarrassment is even better, so make sure to always have a camera on you.


-I have to constantly tell people that I'm not angry or that the reason I'm not smiling is because I just went to the dentist (I'm to lazy to explain, I've done it a million times already.)

-I have to exercise more (or I should) in order to keep my muscles working.

-Random muscle pain is never fun :(