There are 5 attributes that most with Duchenne present with:
Enlarged calf muscles– called “pseudohypertrophy”
Gower Maneuver (see image below) when getting up from the floor, using the hands on the floor and the legs
Toe walking– common but not always present at young ages
Waddling gait– an excessive side to side sway of the body while taking steps
Falling often– more than typical children and maybe even being referred to as a “clumsy” child
Confirm what tests were used to conclude the diagnosis of Duchenne. (Blood test (CK), genetic test, clinical tests, muscle biopsy, etc.)
Take that information and seek the baseline evaluations required at a knowledgeable multidisciplinary neuromuscular clinic.
Obtain confirmatory genetic testing to know the specific genetic mutation present.
Participate in the Cares Registry
Request physician referrals for physical and occupational therapy, pulmonary, cardiac, orthopedic, genetic, dietician, and gastrointestinal consultations to name a few that may be needed depending on age.
If you suspect Duchenne muscular dystrophy but your physician is unsure or states that it is too soon to tell.
Your son has just been diagnosed and you do not know what to do first.
You have been told by a physician or other parents that you need to be doing stretches.
You learned the stretches online or by word of mouth and need to check that they are being done correctly.
Your son needs night splints for his ankles.
There has been a change in his condition, strength, function, pain or flexibility even if the change is minor.
When adaptive equipment is needed for mobility and to ease daily activities.
Physical therapy treatment plans are individualized for the individual patient. After the therapist does a comprehensive evaluation, he or she determines the treatment plan and takes into consideration such factors as: current physical status, functional status and concerns and goals that you and your child have. In addition to information gathered during the assessment, knowledge of the disease progression and stages of Duchenne can help anticipate some future needs that may require planning in advance (for example, evaluation for a mobility device), which can also influence frequency of PT appointments.
With that said, there is no magical formula, age or stage of Duchenne that automatically determines therapy frequency. It is highly individualized and can and should change throughout the course of your child’s therapy. You and your child’s physical therapist (and your child, when age-appropriate) should talk in detail about why a specific frequency was chosen and what the actual session may look like and include.
It is better to do the stretches while your son is awake, so he can get used to the routine. Involving him in the daily stretching routines (for example: having him count out loud with you, singing a song while holding the stretch for the duration of the song, or putting stickers on a reward chart) may make it a more pleasant experience for him with less resistance. That said, if there are times when you do not want to wake him up from a nap and otherwise would not be able to get the stretching program done that day, it is okay to stretch him while sleeping.
It is recommended as part of the standards of care that all people with Duchenne muscular dystrophy utilize resting Ankle-Foot orthoses (AFOs). These devices are intended to prevent the onset or the worsening of ankle stiffness. It is recommended that they begin as early as possible, even before any stiffness of the ankles has begun. It is easier to prevent stiffness before it starts then reverse it once it exists. Children as young as 2 years old have started routine use of AFOs. When these are consistently used from a young age, the results tend to be more beneficial.
60-second stretches are supported by research and allows enough time for muscle tissue to relax and lengthen. There really is no advantage to holding a stretch for longer than 60 seconds. We want to avoid over-stretching (which in turn may cause extra pain/discomfort and tissue damage) or cause voluntary resistance (your child using his muscle strength to push back against the stretch). If you need more focus on one area, we recommend doing the 60 seconds then relaxing before repeating the stretch one more time for 60 seconds. Since each person is different, it is recommended to consult with your physical therapist to determine the best individualized program.
It is not “mandatory” for each family to purchase a massage table for stretching, as the decision may depend on space in your home, finances and the size of your child. Many families perform the stretches on a couch or bed which can be a solution although many beds and couches are much too soft. Massage tables can be adjusted for different heights, so at some point as other factors change, it may be beneficial to get a massage table to promote safety for transfers and proper body mechanics for the person performing the stretches.
Yoga is a wonderful option for self-stretching, core/trunk stabilization, respiratory health and circulation to add to your home exercise program. The program should avoid “power poses” requiring a great deal of energy and strength. Consider seeing a physical or occupational therapist who is certified in “therapeutic yoga” for both adults and children. Regardless of whether the instructor is a health care professional or a general yoga teacher, ensure that he or she is knowledgeable on both safe and contraindicated poses and movements for those with Duchenne muscular dystrophy.
Video games can offer a nice break from or addition to physical activity. However, keep in mind that video gaming usually involves sitting in one position for an extended period of time. Even though demands are less on the legs and cardiorespiratory system, all muscles are susceptible to getting stiff and tight—including the smaller muscles and tendons in the hands and fingers! Depending on their abilities and tolerance, consider games using motion control console systems (such as the Microsoft Kinect for Xbox 360, Sony PlayStation Move or Nintendo Wii) to incorporate more movement while gaming. Another suggestion is to set a timer to signal “stretch breaks.” Ask your physical and/or occupational therapist to help with alternate positions or modifications to keep video gaming safe and fun!
Most physical and occupational therapists have never met, let alone treated a patient with Duchenne. In many cases, Duchenne was not covered during their education. All therapists should have the hands-on skills required to treat someone with Duchenne but what is more important is that they understand what Duchenne is so that they can apply their skills correctly.
When looking for a qualified therapist, please contact Duchenne Therapy Network at firstname.lastname@example.org to see if there is a trained therapist in your area. Also, look at the CureDuchenne Cares Certified physical therapist list. They have received additional training and testing on Duchenne management and care, and they are uniquely qualified professionals you can reach out to. It may help if you are able to ask others in the Duchenne community if they have a referral for you. If these resources are not helpful in your area, you can quickly interview a potential therapist with these three questions to see if they might be the “right” one:
Have you ever treated anyone with Duchenne? If so, how many, how long ago and what stages of Duchenne do you have experience with?
What therapeutic exercises such as stretching and strengthening do you focus on with Duchenne? You are hoping to hear that they understand the importance of frequent stretching and the caution needed with any “strengthening” type of exercise.
Would you be willing to consult with a Duchenne therapy specialist, such as Jennifer Wallace, to collaborate on proper treatment techniques if needed?
If the circumstance arises where you do not know what the treatment is that the therapist is proposing, or even more so, feeling that it is not an appropriate treatment for someone with Duchenne, the best way to handle it might be to ask the therapist, “What exactly is that treatment?”; “What effect will it have on the body (muscles, joints, etc.)?” Then ask, “What are your goals for this treatment?”
These questions should help you and the therapists have a deeper discussion about the proposed treatment and the benefits and risks of it. It is of utmost importance that the therapist does not perform interventions that harm the muscles and that you are comfortable with the therapists that is treating you or your family member.
A contracture is when a joint is no longer able to move through the full range of motion due to a severe muscle, tendon or joint fibrosis. To be a contracture means that there is significant fibrosis and one wouldn’t be able to recover range of motion without aggressive intervention such as surgery. Many times, stiffness is incorrectly referred to as a “contracture.” Tightness or stiffness don’t feel as rigid and can actually be changed or reversed by less invasive treatments such as stretching and positioning. It is important to strongly express that a range of motion program must be specific, prolonged, frequent and consistent to improve range of motion and prevent tightness from becoming a true contracture.
There are many centers throughout the world which can properly address the many needs of someone who has been diagnosed with Duchenne. Some of the attributes to look for are a “multi-disciplinary” model of the neuromuscular clinic. With multiple medical specialties at the same center, it should foster continuity of care and collaboration between your family and all of the physicians involved in their care.
Some of the specialties to look for in a neuromuscular clinic are:
Neurologist: Commonly the head of multi-disciplinary Duchenne healthcare teams.
Cardiologist: The heart is a muscle too and can be affected at different rates for those with Duchenne.
Pulmonologist: The muscles required for breathing are affected in Duchenne as well. A pulmonologist is able to assess and treat respiratory issues as they change throughout the lifespan. Many of the symptoms might overlap with a recommended cardiology appointment.
Orthopedist: Joint contractures and poor bone mineral density are common in Duchenne. An orthopedic doctor specializes in bone and joint health.
Endocrinologist: The endocrine system is affected by chronic glucocorticosteroid use.
Gastroenterologist: Muscles associated with chewing and swallowing and nutritional status are affected by Duchenne at varying degrees depending on progression.
Psychologist: Some with Duchenne experience language delay and difficulty with focus/attention. Those with Duchenne and their families often require mental health support.
These answers were reviewed and provided by a licensed physical therapist. However, you should always consult your own physical therapist or medical professional before making changes to you or your son’s routine.