Category Archives: Health & Medicine

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: dehghan@kennedykrieger.org.

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: http://www.bowlermedical.org/. 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

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

Ask the Physical Therapist: Running a Marathon and Customized Workouts

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 am a 48-year-old man who is asymptomatic. I am still fairly active. Prior to my genetic diagnosis of being positive for FSHD in 2011, I ran two NYC marathons in 2008 and 2009. I am thinking about running another one next year or the year after at a slower pace than I did six years ago. I ran a sub 4:15 in those, and this one would probably be somewhere between 5 and 5.5 hours.

Do you foresee any issues or have any concerns if I take up this endeavor? If not, what precautions could or should I take prior to and during the training for the race?

Awesome! I think this is an excellent goal! My advice is to proceed with awareness and just an ounce more of caution with your training in general. I would say the same thing to anyone who has not run for a while. Something in particular to think about is that while you may not be aware of any symptoms right now, there may be very subtle areas of weakness or tightness that can predispose you to injury (this is true of the general population). This video, put out by the American Physical Therapy Association, is an excellent resource for things to consider when returning to running: http://www.moveforwardpt.com/…/VideoLibrary/detail.aspx. Continue reading

Ask the Physical Therapist: How much is too much exercise and “pinging” in an arm

The following is a partial 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.

How can we know when we are overexerting ourselves? I cannot “feel the burn” until it’s too late. Is this a normal response to exercise among FSHD patients? To preface my query: I have FSH muscular dystrophy but am what I call a “middle grounder” in the sense that I am not “normal” in appearance or walking, but don’t yet require super heavy-duty artillery (i.e., full leg braces or chair) to move around. In my youth, I was a dancer and quite an active outdoors person (hiking, swimming, bungee, hang gliding, cycling). But as I have lost my abilities to move around, I also seem to have lost my sense of when too much is too much. My brain still thinks of my “old normative lifestyle,” and my body just can’t do it anymore. What cues do I need to pay attention to when working out so I do not overtax the affected muscles?

This is such a great question, and I think a common one for those with neuromuscular disorders. I have seen this commonly in my clinical practice as well—though it is not a universal problem for everyone with FSHD. I think this is especially hard for the very active person like yourself—we are so used to just pushing through for the ultimate goal instead of necessarily listening to our bodies (I am the same way).

I think all of us as we age need to generally improve our ability to be attuned to our bodies. Everyone experiences fatigue differently, so I cannot give a very specific way for you to read your body. But I generally recommend people to set goals based on time and check-in. For example, swimming for 10-20 minutes and resting for one to two minutes and doing a check-in with your body to see what you are feeling.

If the attunement part is difficult, I highly recommend some of the mindfulness practices to help. The Body Scan is a great way to work on awareness of the body. There is a short Body Scan meditation practice available through UCLA (and many others): http://marc.ucla.edu/body.cfm?id=22

I don’t recommend doing the Body Scan as you exercise, but doing it separately can help with overall attunement to and awareness of the body. Finally, I recommend having someone—a friend, trainer, PT—watch how you are exercising. There may be some ways you are moving that are not efficient and may set you up for more fatigue or injury, and they could provide you with recommendations to improve the way you move.

Sometimes, especially in my arms, I feel a “ping” like a guitar string breaking. Is this the striae of a muscle? Is it dying? What does it mean?

Well—this is an interesting question! Thank you for asking it! However, without seeing you, this one is tough to know exactly what you may be experiencing in your arms. I have heard people describe “pings” to me in various circumstances that can be muscular twinges or tightness, nerve “tightness,” or even joint related. A physical therapist evaluation would help to determine the cause.

In general, the muscle degeneration that occurs with FSHD does not occur with muscle fibers “dying” instantaneously, so my guess is that this in particular is not a sensation of a dying muscle fiber specifically.

What the research shows is that muscle biopsies from people with FSHD show nonspecific myopathic changes, including rounding of muscle fibers, degenerating and regenerating fibers, increased internal nuclei, and, later in the disease course, increased fibrosis. I am not sure what these muscle fiber changes “feel” like to the person, but I often hear people say that they feel “tight” or “restricted” sometimes. Other people more predominantly notice the atrophy involved.

As far as the striae—the striations of muscle tissue are made by the repetitions of sarcomeres (made of the individual filaments of the muscles). These give the muscle the striated or striped appearance.

Ask the Physical Therapist: Myofascial Release and Paraspinal Exercises

The following is a partial 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 slowly continuing loss in what I think are my paraspinal muscles. What specific exercises can I do to help me improve my “pitch forward” posture?

The paraspinal muscles are the muscles that run along either side of your spine and include either the superficial erector spinae muscle group or the deep multifidi muscles. There is a vast amount of research looking specifically at which exercises best isolate these muscle groups. For trunk and back stability, it has been indicated to train the deeper multifidi muscles. It is difficult to recommend one particular exercise without knowing your ability, but some of my favorite exercises include the bridge, exercises on hands and knees, and lying on your stomach and lifting your legs and/or back. I cannot overemphasize how important it is to have an individual evaluation to determine which of these types of exercises are best for you. It is easy to compensate and perform the exercises incorrectly and therefore injure yourself—so I recommend a PT evaluation to set up exercises specific for you.

The “pitch forward” posture can have several causes that I like to examine to determine the best intervention. Some of the common causes include tight hip flexors, hamstrings, or calves, and weakness in abdominals, hip extensors, legs, and back muscles. The position and the posture of the head and neck can also be implicated. Again, I recommend a thorough PT movement evaluation to determine the underlying problems and guide you to the best treatment.

Would you explain myofascial release and where I can direct a PT to go for information and training? No one in my rural area is doing this.

Myofascial release is a special type of massage or soft tissue mobilization. The most popular form has been developed and taught by physical therapist John F Barnes. However, there are other methods. Many PTs and massage therapists practice different types of myofascial release, and I do not prescribe to one particular method, but a common element is this idea of gentle, sustained pressure. A definition from the John Barnes website: “Myofascial release is defined as a safe and very effective hands-on technique that involves applying gentle sustained pressure into the myofascial connective tissue restrictions to eliminate pain and restore motion. This essential “time element” has to do with the viscous flow and the piezoelectric phenomenon: a low load (gentle pressure) applied slowly will allow a viscoelastic medium (fascia) to elongate.” You can find a therapist trained in his specific techniques at https://www.myofascialrelease.com/find-a-therapist/.He also has some resources in Massage Magazine on techniques: http://www.massagemag.com/practice/technique-articles/.Finally, there are a lot of videos on YouTube under myofascial techniques or release that may be a good resource for your PT.

Another thing to think about: Often, new graduates and even PT students have a good background in these techniques because they are newer. You may benefit from working with a student who is doing an internship at your local clinic

Download our medical alert card

If you ever find yourself in the emergency room, you want your medical care team to know about your status as a person with FSH muscular dystrophy. Our medical alert card, which provides essential information for emergency responders, is available for you to download, cut out, fold and carry in your wallet. Just click here: FSH Society Medical Alert card.

Ask the Physical Therapist: What are the best exercises for different muscles?

The following is part of the 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.

Q. What’s the best exercise for arms unable to move above shoulder height?

A. Best exercise for arms unable to move above shoulder height: oh, yes—a very big question! Again, this depends on how much movement and strength you have, so I cannot give specific advice, but I will offer these general suggestions. I often recommend exercises in which you do not have to move against gravity. A good example is a shoulder exercise lifting the arm to the side while lying down. This provides good scapular support, and you don’t have to lift against the force of gravity. Continue reading