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Hot off the press! FSH Watch Fall 2015 issue

2015-FallWatch_CoverThis October we had our first-ever gala in Los Angeles, an incredibly fun Halloween costume ball aptly named “A Ghostly Gala to Vanish FSHD.” There, June spoke of the importance of raising public awareness, because you first must make something visible before you can make it vanish. That’s just Magic 101. But it’s a serious point. How can we make FSHD more visible? One way is to stir up a cauldron of activity. This issue of FSH Watch overflows with reports of our accomplishments: Continue reading

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Gene Interference Technology Used Against FSH Muscular Dystrophy Genetic Defect

dCas9 figProof-of-principle study is the first to use CRISPR technology on the “repeat genome,” as well as its first successful use in primary human muscle cells

Whole-Body MRI Yields New Insights

By June Kinoshita (from FSH Watch Fall 2015 issue)

Click on image below to view full size.

FW15_Leung_Figure 1

Heat map of all 1330 muscles scored in 13 individuals with FSHD. Subjects are arranged (left to right) from lowest to highest mean MRI score. Muscles on the left and right sides of the body are placed to the left and right sides (respectively) of the labeled tick marks for each subject. Fat infiltration scores on T1-weighted MRI (from 0 to 5) and their corresponding colors are shown in the numbered bar on the right. The mean MRI score for all muscles scored within a single individual are represented in the bottom row. Muscles are listed in a superior-to-inferior arrangement, corresponding to the anatomic regions defined by the composite coronal MR image on the right. (From Muscle & Nerve.)

In 2013-2014, the FSH Society funded a study led by Doris Leung, MD, of the Kennedy Krieger Institute (KKI) in Baltimore, Maryland, which investigated the use of whole-body magnetic resonance imaging (WBMRI) as a method for detecting and characterizing skeletal muscle pathology in facioscapulohumeral muscular dystrophy (FSHD). An imaging method that is sensitive to changing severity in a slowly progressive disorder such as FSHD could not only improve our understanding of the disease and its progression, but also facilitate quicker clinical trials with smaller sample sizes. Continue reading

Ask the Physical Therapist: Can braces or taping assist weak muscles?


Julie Hershberg PT, DPT, NCS

The following is from the transcript to a session conducted on Friday, November 13, 2015, over the FSH Society’s Facebook page with Julie Hershberg PT, DPT, NCS. Hershberg is a physical therapist who is a Board Certified Neurologic Specialist.  She practices at [re+active] physical therapy & wellness and is an instructor in Doctor of Physical Therapy program at USC. Additional questions and answers will be posted in the future.

Q. I am a physical therapist also and my son has FSHD. Has there been research done on using braces or taping techniques to assist weak muscles or improve posture to then decrease the stress on other compensatory muscles? If so, what are your recommendations for how to get these braces? Continue reading

Scholarship rewards students for spreading muscular dystrophy awareness

ScholarshipImageThe FSH Society has teamed up with the Jain Foundation and 7 other patient advocacy organizations to fund scholarships to college students who teach others about hereditary muscle-weakening diseases. These conditions include FSHD, the limb-girdle muscular dystrophies (LGMDs), Pompe disease and HIBM (Hereditary inclusion body myopathies).

Four $3,000 scholarships will be awarded in 2016 to students who teach others about LGMDs (limb-girdle muscular dystrophies) and similar genetic muscle-weakening conditions. Any student entering an accredited US post-secondary institution including colleges, universities, technical schools, medical schools and graduate programs is eligible to apply. Continue reading

Acceleron plans to launch Phase 2 FSHD trial this year

Acceleron Pharma, from WGBHnews.org

Acceleron Pharma, from WGBHnews.org

According to a Boston Business Journal story, Cambridge, Massachusetts-based biotech Acceleron Pharma has plans to test its ACE-083 compound in facioscapulohumeral muscular dystrophy patients in a phase 2 clinical trial later this year: “The company presented top-line data from a Phase 1 trial in healthy volunteers showing the drug, which is injected into the muscle, was able to increase the size of a patients thigh muscle by up to 14 percent versus placebo. CEO John Knopf described the results as “unprecedented” and said that the company plans to advance ACE-083 into a phase 2 trials in patients with facioscapulohumeral muscular dystrophy in mid-2016.”

Los Angeles Abilities Expo, Calling All Artists!

Elm in the Sun, by Amy Bekier

Elm in the Sun, by Amy Bekier

FSH Society Board member Amy Bekier is organizing an FSH Society booth at the 2016 Los Angeles Abilities Expo (February 5-7) on the theme of artists living with FSHD. Creative artists of all genres are welcome to join our booth. It’s a great opportunity to represent their talent to thousands of attendees. Admission is free so invite your friends and family. Adaptive equipment & technology, food, music, dance, sports, therapy animals and workshops. Something for everyone!

Artist exhibit space at our booth is limited so act fast. Contact Amy Bekier by email or at (619) 972-0993. Visit the Los Angeles Abilities Expo website for information and directions.

Anson Calder supports FSH muscular dystrophy research

Give the gift that gives back! Anson Calder’s super slim, elegant wallet is the perfect present to put under the tree this year. “Your search for the perfect wallet is over. At 1/8″ thick, this wallet can easily carry all of your necessary cards while maintaining an exceptionally thin profile. Made in the USA from luxurious French calfskin and finished with hand-burnished edges, this wallet will stand the test of time and only grow in beauty.” Every wallet comes in an elegant box with a card explaining FSH muscular dystrophy, and a portion of proceeds is donated to the FSH Society.


What FSH Muscular Dystrophy Has Given Me

Learn, let go, and find beauty in new places
By Meredith L. Huml, Raleigh, North Carolina

Meredith Huml

Meredith Huml

As a muscular dystrophy sufferer—I was diagnosed with FSHD at Duke University’s Muscular Dystrophy Association (MDA) Center in 2003—the best advice I could offer someone who is newly diagnosed would be, “Don’t hesitate to educate yourself on your affliction.” Figuring out what exactly you are dealing with and how you can help yourself and your loved ones will make the situation easier to cope with. Continue reading

Update on Early-Onset FSH Muscular Dystrophy Study



Insights on symptoms, biology, and quality of life
By Yi-Wen Chen, PhD and Jean Mah, MD

While most people with FSHD develop muscle weakness during late teen years or adulthood, about 4 percent of patients have early-onset FSHD. Patients with early-onset FSHD develop disease symptoms early in life (facial weakness before 5 years old and shoulder girdle weakness before 10 years old), have more severe muscle weakness, are more likely to need a wheelchair later in life, and have a higher chance of developing non-muscle symptoms (hearing loss, retinal vascular disease, developmental delays, and cognitive/intellectual disabilities). Continue reading