Imaging study shows positive effects of exercise and CBT on muscle degeneration

In 2014, a Dutch team reported that aerobic exercise training (AET) and cognitive behavioral therapy (CBT) decreased fatigue and improved the quality of life significantly in FSHD patients. Now, the same group has published a study demonstrating that not only did patients given AET or CBT feel more energized and active, but that their muscles degenerated more slowly than in patients who received standard care.

Strikingly, the effect was largest in the CBT group. CBT often focuses on how your thoughts can influence your behaviors and the choices you make. It is often used to treat patients with chronic illness to improve their functioning in their daily life. Continue reading

Consensus Reached to Move Forward with Formation of International Global FSHD Patient Registry

Newly Formed Facioscapulohumeral Muscular Dystrophy Consortium Aims to Consolidate More than 13 Patient Registries in Effort to Accelerate Research on Rare Disease

BOSTON – (February 22, 2017) – Today the FSH Society, a world leader in combating facioscapulohumeral muscular dystrophy (FSHD), announced that with the FSHD Champions, an international alliance of FSHD patient advocacy organizations, a consensus has been reached to move forward with the vision of an international global FSHD patient registry. The goals of the registry will be to accelerate research to understand and treat FSHD, and empower patients to gain insights from the data about their condition and improve their health and quality of life. Continue reading

Donated patient tissue is helping to advance research

First report from the FSH Society’s tissue donation registry

by Kelly Jackson, Fulcrum Therapeutics, Cambridge, Massachusetts

At Fulcrum Therapeutics, human tissue serves as one of the most basic yet essential tools available to help in efforts to develop new medicines to treat FSHD and other genetic diseases.

Human biospecimens have long served as a foundation for the development of precision medicines. By deeply analyzing human tissue at the cellular level, researchers gain indispensable insights into how a disease progresses, which may open the door to new treatment strategies. These insights also enable the development of personalized molecular tools that are used to evaluate the safety and efficacy of novel therapeutics as they move through human clinical trials. 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. 


Promising FSHD mouse model from Harper lab

Video caption: These mice are siblings and genetically identical. In the one on the right, we turned DUX4 “on”, while in the one on the left, the DUX4 gene remained “off”. FSHD mice have a slow and unsteady gait caused by weakened muscles. You may also notice a hunched back, which is also a sign of muscles being too weak to support the skeleton properly. We are using these animals to test therapies that inhibit DUX4. Credit to Carlee Giesige, a PhD student in the lab, for the video and for characterizing these mice.

by Scott Harper, PhD, Columbus, Ohio

Mouse models of disease are important tools for developing therapies. During the past decade or so, several attempts have been made to generate FSHD mouse models that express the DUX4 gene in their chromosomes.

Although these models were designed logically, the animals were difficult to produce, and they did not show the muscle weakness and damage seen in humans. These first models also suggested that it was difficult to make mice expressing human DUX4, because the gene was toxic and incompatible with normal mouse development.

We concluded that if we wanted to make a DUX4 mouse, we would have to tightly control when and where it could be turned “on,” and began working to generate a new FSHD mouse model in 2009. After many difficulties, we finally successfully produced a model in which DUX4 could be turned on only in muscles. Continue reading

A tunable FSHD-like DUX4 mouse model

by Peter Jones, PhD, and Takako Jones, PhD, University of Nevada, Reno

The aberrant expression of the DUX4 primate retrotransposon is the key mediator of all forms of FSHD. Thus, the DUX4-fl mRNA and protein are prime targets for therapeutic intervention.

Our laboratory at the University of Nevada, Reno School of Medicine reports the successful generation and free distribution of a viable, fertile, and highly tunable phenotypic FSHD-like transgenic mouse model based on the controlled expression of DUX4. This mouse, referred to as FLExDUX4 (or FLExD), is now available from The Jackson Laboratory as B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)/Plj/J, catalog #028710 (

H&E staining shows severe muscle pathology in gastrocnemius muscles of ACTA1-MCM, FLExD severe FSHD-like model mice (center) compared with ACTA1-MCM healthy control mice (left). DUX4 immunostaining (right) shows mosaic expression and the nuclear localization of DUX4 protein in gastrocnemius muscle after TMX induction. Figure courtesy of Jones laboratory.

Continue reading

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

Ask the Physical Therapist: Zero-Gravity Treadmills, Strength Training, and Braces for Lordosis

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 been recently diagnosed. I have always been quite active. However, I have been told to stop my kettlebell class, as well as using any free weights, and go swimming instead. Is this something you agree with?

The general thought in the past is that strength training was harmful for FSHD—that is not the case now. Moderate-intensity strength and aerobic exercises have been found to be safe. So the answer is not a universal recommendation to stop strength training! However, it would be important to know how you are performing the exercises so that you are using the appropriate amount of resistance and not compensating or hurting yourself. I recommend a physical therapist to help give you guidance in this area! Continue reading

Sacramento meeting report

About 12 members of the Sacramento FSH Society Support Group met at Mimi’s Café on February 8th.  We had a new attendee who moved from Monterey and had never met another person with FSHD until a few years ago when she met the daughter’s of the FSH Society president.  Chris Ford was in attendance and announced that she was now on the board of directors for the FSH Society and would like to serve as a conduit between the FSH Society and our support group.  Continue reading

On patient registries: findings from our suvey

Last November, the FSH Society invited its members to participate in a survey designed to gauge what members understand about patient registries and for researchers to gain insight into what kind of information patients expect to learn from registries. Here are the findings, summarized in a slide presentation given by June Kinoshita, FSH Society executive director, at the European Neuromuscular Center’s international workshop on FSHD patient registries. Download here: FSHSociety-ENMC Workshop