05/12/2014 11:25 am ET Updated Jul 10, 2014

A Lay (Wo)mans Description; FSHD Muscular Dystrophy 101

A lay (wo)mans FSHD 101

Disclaimer: I am in no way a doctor or medical professional. This is a general FSHD description written by a diagnosed patient. It is meant for a general informative purposes written from a patient's point of view.

At some point in time when we are in a conversation with someone who is disabled, we always come to the point that somebody will ask "What do you have?"

This was a question that I used to answer with "I have MD, Muscular Dystrophy." But after many times of having to correct a well-meaning soul that I in fact did not have MS, Multiple Sclerosis, I changed it to the type I have, instead of the parent of my disease.

We always get that blank stare of sheer bewilderment from someone -- which let's face it, is most everyone -- when we answer with "I have FSHD."

That awkward moment is like being a deer caught in the head lights, but everyone in the conversation is the deer.

Here is a lay (wo)man's description of what FSHD is from someone with FSHD.

What is FSHD?

FSHD; Facioscapularhumeral Muscular Dystrophy

As defined by the FSH Society;

Facioscapularhumeral Soceity, FSHD (Landouzy-Déjérine disease); is an inheritable muscle disease, commonly called FSH or FSHD. Progressive weakening and loss of skeletal muscle are its major effects. It has significant medical and health impacts on individuals, families and society.

This form of Muscular Dystrophy is one of the more common forms affecting about every 1 in 7,500 people worldwide. FSHD is diagnosed by it's own identifiable symptoms.

Always consult a doctor or other medical professional for medical advice.

Some of those symptoms include, but are not limited to:

* Weakness in the face. For instance the eyes may not close shut, inability to whistle and the mouth may not be able to pucker. For those more severely affected, it may be difficult to smile or emote.

* Weakness in the upper arms and winging of the shoulder blades. Displaying difficulties reaching for objects above the shoulder and head level. Surgeries to fuse the blades to the rib cage may help to relieve symptoms.

* May have weakness through out the body. Lordosis, foot-drop, difficulties running standing or walking. Issues with tripping and/or falling frequently due to weakness. The back, hips, upper and lower legs, ankles and foot can all be affected by weakness cause from FSHD. Braces, corseting, AFO's, canes, walkers, and wheelchairs may be required to aid in mobility.

* Other symptoms may include vision and hearing lose.

I am NOT a doctor. I will say it again, always consult a doctor or other medical professional for your medical advice, needs, and concerns.

Recently, research has discovered that the are two types of FSHD Muscular Dystrophy. FSHD type 1a and FSHD type 1b. FSHD type 1a is more common and is a mutation of chromosome 4, while FSHD type 1b is more rare, caused by a new mutation resulting in the deletion of chromosome 4.

This may be a little too science-y for some. For more information, I refer you to The FSH Society, FSHD Global Research Foundation, and the many other great accredited organizations working towards treatments and cures for FSHD Muscular Dystrophy.

First and foremost to understand about FSHD, is that everyone affected has a unique experience.

Areas affected, severity, and progression is different to each. It can be slow or accelerated, it can happen at anytime, or it can be dormant for long periods of time, just as a progression can last for long periods of time. And although it is true that not everyone displays symptoms or progresses to the point of requiring the use of a wheelchair, roughly half of those diagnosed are expected to utilize a wheelchair at some point in their lifespan.

Now that we have had introductions to what FSHD is, I'd like to talk about a few of it's issues having FSHD has with it that may be underestimated when coping with this disease.

Weakness / Fatigue / Swelling / Pain

Over time as progression occurs the affected muscles will weaken. It may become harder to raise your arms, run, walk, and eventually stand. Over-action of the muscles because of use can lead to swelling and pain. Being tried and fatigued during a particularly physical activity or busy day can be tiresome as strength is lost from affected muscles. I find often times joint pain and arthritis can complicate the symptoms of FSHD.

Pain is also associated quite commonly with patients diagnosed. As the scapulae begins to wing, the muscles supporting the affected ones do not go unscathed. Pain is manageable through a variety of methods, including but not limited to holistic, homeopathic, and prescribed medications.

That's between you and your doctor to decide what is working best for you.

Muscle spasms / Cramping / Dis-jointing of body parts

It is as unpleasant as it sounds. Which is why pain with FSHD patients is a common occurrence. As the muscles weaken over time through progression, muscle spams and cramping can tend to be more frequent. Just as a charlie horse can be quite unpleasant, when the muscles are always in a stretched or contracted position for long periods of time without being able to relax, it may trigger a body response that something isn't being used as it should. If it cannot be adjusted or if the person is unable due to atrophy or fixation, it can create a chronic issue.

With dis-jointing, it's the same as winging and can be very painful. The support muscles of certain body parts such as arms, legs or the jaw, may become imbalanced and weaken over time. The muscles become unable to hold the arm or jaw in place in it's socket resulting in an a shoulder or hip slipping out of socket, for instance. Injuries can also be a result from growing general clumsiness, bumping into things, tripping, falling, and buckling of the knees, ankles, elbows and wrists, to name a few.


Progression is a fully faceted, all encompassing symptom. One very complicated that can influence every dimension in our lives. As the physical toll of FSHD, our affected muscles lose their strength. With that comes our physical ability to do the things with our bodies we want to. It's not just our ability to raise our arms above our heads, or having the biggest smile on our face, or to be able to walk, it means it becomes more difficult over time to indulge in our physical passions.

For some, it may mean the inability to play tennis, or the inability to smile at a loved one, or the inability to become the worlds fastest at the 500 meter dash.

Depression, anxiety, and other mental health issues have been observed with people diagnosed with FSHD. Coping with loss of function and abilities, chronic pain, social stigmas, discrimination, and challenges with overcoming physical limitations are primary causes for mental health issues

Now that we have covered most of the basics, in this not so health book version of the facts about FSHD, you can have more confidence next time you find yourself answering this question for the ump-teenth time.