Category Archives: Health & Medicine

¡El folleto “About FSHD” ya está disponible en español!

Estamos muy contentos de anunciar que About FSHD, nuestro folleto esencial para todos los pacientes, familias, proveedores de atención primaria y otros, ha sido traducido al español. Damos las gracias a Manuel Gómez y al Dr. Alberto Rosa por su generosa ayuda. El folleto está disponible en formato descargable aquí.


Ohio FSHD Family Day Conference

Strengthening our network in the Midwest

The FSHD Family Day Conference, hosted by Nationwide Children’s Hospital and the FSH Society on June 11, 2017, drew about 70 patients, families, researchers, and clinicians to Columbus, Ohio. The half-day meeting provided an opportunity for two of the nation’s leading FSHD research centers to share expertise and research advances with patients and families in the region. Patients and caregivers shared their observations and experiences of living with FSHD. Continue reading

Our new Physical Therapy brochure

Hot off the press, here’s our updated Physical Therapy brochure! Co-written by leading FSHD experts Katy Eichinger, PhD, Shree Pandya, PT, DPT, MS, and Wendy King, PT, the brochure provides an excellent review of the literature on PT and exercise and practical guidelines for patients and therapists. If you would like to order copies, please send your postal address to You can also download the brochure here (but it’s worth having a supply of the printed ones to share with your PT, family members, etc.).

Intriguing research on tyrosine kinase inhibition as a potential therapy for FSHD: Sunitinib rescues muscle cells’ ability to develop

Written by Jim Albert
Eldersburg, Maryland


A cancer drug has been shown to potentially rescue some of the damaging effects of DUX4, the gene implicated in FSH muscular dystrophy. The laboratory of Peter Zammit, PhD, Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom, in collaboration with Robert Knight, PhD, of the Department of Craniofacial Development and Stem Cell Biology at King’s, has published the results of its research on the activity of an FDA-approved drug, sunitinib, as having potential therapeutic activity for FSH muscular dystrophy (FSHD). Continue reading

FSHD patient survey results presented at MDA Conference

At the Muscular Dystrophy Association’s biennial scientific conference, held in Washington, DC, on March 19-22, 2017, researchers from Acceleron Pharma presented a poster about the most prominent symptoms and daily life impact of FSH muscular dystrophy, as reported by patients and caregivers. The report was based on results from a survey developed by Acceleron in collaboration with Dr. Jeffrey Statland of the University of Kansas Medical Center and June Kinoshita from the FSH Society. Researchers at aTyr Pharma also contributed comments on the survey design. Continue reading

Q &A on potential use of BET inhibitors for FSHD

On February 13, Canadian biotech, Reserverlogix announced that facioscapulohumeral muscular dystrophy (FSHD) is one of two new indications it is pursuing involving its lead drug, apabetalone (RVX-208) which inhibits bromodomain and extra-terminal (BET) epigenetic readers.  It mentioned research conducted at Saint Louis University demonstrating apabetalone mediated modulation of important targets in FSHD.  The FSH Society funded seminal seed-funds to Dr. Fran Sverdrup at Saint Louis University starting in 2014 to conduct pilot research to study BET proteins as therapeutic targets in FSHD.  It is still early days with respect to this research.  Dr. Fran Sverdrup in response to inquiries he has received following the Resverlogix press release, along with the desire to start managing patient expectations about the status of BET inhibitors as a potential therapy for FSHD and research required to validate a candidate drug as an effective treatment, has put together the following Q&A to inform our readers about the status of BET inhibitors.

What are BET inhibitors?  BET inhibitors are a class of drugs with anti-inflammatory and anti-cancer properties. Although no BET inhibitors are yet approved for use in the US or internationally, there are several clinical trials ongoing in the areas of cancer and cardiovascular disease. These drugs bind to and inhibit Bromodomain and Extra-Terminal motif (BET) proteins BRD2, BRD3, BRD4, and BRDT. Since BET proteins generally bind to active or “open” chromatin and turn on nearby genes, BET inhibitors act to suppress (turn off) genes that are over-expressed in disease settings. Continue reading

Johns Hopkins Studies

Johns Hopkins and the Kennedy Krieger Institute are currently recruiting for two studies!  Volunteering for studies like this helps provide researchers with the information they need to provide better treatments, understand the mechanisms of the disease, and search for a cure.

For Family Members (no travel necessary!):

The Johns Hopkins Hospital and the Kennedy Krieger Institute are looking for first-degree relatives of FSHD patients ages 35 and older who do not currently show symptoms.  Volunteers will be asked to give a blood draw, which can be performed at any local lab.  The blood draw, the genetic test, and shipping will be covered by the study.

Interested individuals should contact Pegah Dehghan:

Study Protocol Number: NA-00019985. 

For Patients: Continue reading

Ask the Physical Therapist: Inversion tables, trigger points, and chronic pain management

The following is a transcript of a question-and-answer session, conducted 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.

I recently was examined by a physiatrist. Her report has recommended ongoing therapy plus she’s suggested an evaluation at a pain clinic and possible destroxe prolotherapy and/or trigger point injections. Do you know of any studies/reports about this type of treatment for someone with FSHD (or related conditions)?      Here’s the link to their website: The physician page and FAQ page provide information/articles relevant to their treatments.

First of all—so glad that you are working with a physiatrist and specialty clinic for pain—these are great steps toward better health.  There is not specific research regarding FSHD and trigger point or prolotherapy injections. However, there is also not evidence that either of these would be particularly detrimental to people with FSHD.  Trigger point injections are usually an anesthetic and therefore the mechanism of action is at the level of the nervous system rather than the muscle.  The prolotherapy injections are typically also not done directly into muscle and include concentrated dextrose and an anesthetic.   In regards to management of chronic pain, there is evidence that  biopyschosocial factors should be considered in the management of chronic pain for people with FSHD (Miro et al, 2009).  In fact, there is evidence for this approach for all people with chronic pain. I would recommend you inquire about incorporating addressing biopsychosocial factors  as part of your comprehensive pain management program. 


I’m watching a program on an inversion table. I was wondering if that would help or hurt us FSHers? It looks like a great way to twist and stretch the back out (which feels SO good) and helps with respiratory by opening the lungs up–which is hard to do by myself! Any idea if an inversion table would be good for us or have negative effects?

My first question is: have you tried one?  Most people either have a strong aversion or a love of the inversion table just based on personal preferences.   Inversion tables are a form of spinal traction.  Spinal traction most likely stretches the muscles around the spine and can temporarily relieve muscles spasm.  While spinal traction makes us temporarily feel very good, it does not provide long term relief (a Cochrane review in 2006 concluded that there was not evidence to recommend it for the treatment of low back pain).   There are some risks to be aware of with use of an inversion table:  it raises blood pressure, lowers heart rate and increases pressure in the eye.  It is recommended to not use an inversion table if you’re pregnant, have high BP, heart disease, glaucoma or any other eye disease. 

Overall I would recommend that you might try it with a physical therapist under supervision and incorporate it as part of a comprehensive program for low back pain. 


Ask the Physical Therapist: Car Accidents and FSHD

The following is a transcript of a question-and-answer session, conducted 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.

I have FSHD and have been in two vehicle accidents—-one in 2001 and one in 2014. Both accidents resulted in soft tissue/whiplash injuries affecting neck, shoulder, arm, spine and back areas. I am wondering if you know of any articles related to soft tissue/whiplash injury and recovery in people who have FSHD (or a similar conditions)? I am currently receiving physiotherapy, massage therapy, exercise and pool therapy (the latter two provided by a kinesiologist). I am the first client with FSHD that any of the therapists have seen and I’ve given them some articles about FSHD and exercising with FSHD but none address accident injury or treatment.

I reviewed the literature in this area and there has not been research regarding FSHD or similar disorders post whiplash injury.  In looking at the research of whiplash in general, there is also not conclusive evidence that pre-existing muscle weakness or postural deformities contribute to pain or disability post injury.    In that case, I don’t think there would be anything recommended from research for the therapists to do differently in managing your whiplash.  I would just guess that it will likely take longer for you to heal due to potential pre-existing trunk and shoulder weakness.  Continue reading