Living with Duchenne Muscular Dystrophy : Symptoms, Treatment and Understanding the Disease
What Does Having Duchenne Muscular Dystrophy Mean?
The question, “What is DMD?” is a common one, especially for those with loved ones that have been given this diagnosis and must focus on living with Duchenne muscular dystrophy. Also known as DMD, this is an incurable genetic disease that impacts the function of muscle tissue. Simply put, Duchenne muscular dystrophy is caused by a gene mutation – specifically in the DMD gene, which plays a vital role in the production of the protein dystrophin. Dystrophin offers support and protection to the muscle tissue, but individuals with DMD do not produce this protein. As a result, the muscles become damaged each time they are used without any recovery. This type of muscular dystrophy is the most common form of the disease, as well as the one that presents the most severe symptoms.
Though more likely to impact males, as it occurs in about 1 in every 3,500 male births, females are often the carriers of this gene mutation. The inherited gene is frequently noticed in male children when they fail to reach major physical developmental milestones, and are taken to their pediatricians for testing and advice. For example, the child may have difficulty learning to walk, run, or jump, or simply seem unsteady on their feet. Genetic testing, blood tests, and sometimes even a muscle biopsy will confirm the diagnosis and help determine what the next steps taken will be.
Living with Duchenne Muscular Dystrophy: What Are The Signs And Symptoms?
The first noticeable signs and symptoms of DMD often appear between the ages of 3 and 6. While no two patients will experience the onset of these symptoms in the same way – or at the same frequency, there are a few things that parents and caregivers can look for as their children age. These symptoms include:
- Obvious muscle weakness and muscle wasting
- Trouble with learning to sit and walk independently
- Difficulty breathing
- Clumsiness and trouble with climbing or descending stairs
- Behavioral issues or learning disabilities
A person with Duchenne Muscular Dystrophy will most often wind up needing a wheelchair by their teenage years. As the disease progresses, other life-threatening conditions may arise from it. This includes heart and respiratory complications, which go along with the difficulty breathing mentioned above.
Although a difficult diagnosis, Duchenne muscular dystrophy physical therapy can help an individual with this diagnosis reach their full potential, making the most of their day to day life.
Duchenne Muscular Dystrophy Treatment Options
While there is no known cure for DMD, Duchenne treatment options do exist to slow the progression of the disease. With a focus on decreasing the symptoms over time, these treatments can be implemented in many different ways and stages, depending on the level of progression an individual patient is experiencing with the disease. No matter what stage, physical therapy plays a large role in the treatment of DMD, along with the use of medications and other tools.
Although the exact treatment plan will differ depending on what a patient needs as well as on what the results of the treatment are, the following section outlines current treatment practices for Duchenne Muscular Dystrophy that have proven successful at helping patients manage pain either used alone or in conjunction with each other.
Corticosteroids as Treatment for DMD
Corticosteroids that are prescribed for DMD patients include prednisone and deflazacort. These drugs slow the progression of the disease by decreasing muscle weakness and helping to improve muscle strength. This is helpful because this type of treatment may delay the need for Duchenne muscle dystrophy assistive technology, (such as a wheelchair) for an additional 2-3 years. While it may not seem like much extra time, these years will allow patients to interact in a more ‘typical’ way with peers, giving them more enjoyment in life and a chance to make great memories.
Duchenne Muscular Dystrophy Treatment Options include Assistive Devices
The corticosteroids are a great start, and can even help to continue management later in life, but braces, canes, and wheelchairs are always eventually recommended for DMD patients. These devices help to reduce muscle damage and improve independent mobility. During this stage of treatment for DMD, direction from a physical therapist is often utilized to help show the patient and caregiver how to use each device to their advantage properly. These assistive devices are meant to make things easier on patients, but this is only possible when they are implemented correctly.
Many DMD patients will begin by using a manual wheelchair, but as the condition progresses, a powered chair will become necessary. This change will not happen overnight, and getting patients used to the options can make the switch easier to understand when it needs to happen. In addition to the wheelchair, many patients can also benefit from the use of a specially designed bed or mattress that can improve comfort and increase safety.
Duchenne Muscular Dystrophy Physical Therapy Treatment
Physical therapy is often recommended, and pediatric physical therapy is an excellent option for younger patients that have been diagnosed with DMD. In fact, Duchenne muscular dystrophy physical therapy treatment is frequently a critical part of decreasing symptoms because it utilizes the entire body. A physical therapist will focus on active and passive exercises to improve muscular strength, as well as to prevent or slow muscle deterioration as much as possible. In addition, a physical therapist can also
- Help reduce or prevent joint contractures
- Work on respiratory strength and breathing patterns
- Improve skill development
- Offer recommendations an adaptive devices best suited for the individual’s environment
Physical therapy also places a focus on education for the patient and the caregiver. Individuals with DMD will often see a physical therapist throughout their entire lifetime, so building trust and understanding that though difficult, the sessions are designed to help, is important. The more everyone close to the situation knows, the better. Hearing updates and prognosis might be difficult for some, but by having this information available, the treatment plans and patient’s future can be faced head on.
A physical therapist for DMD patients may not be the only therapy that can prove helpful. Due to the difficulty some DMD patients experience while eating, consulting with a dietitian is also often suggested to ensure that patients are getting the nutrition they need to. Other medical professionals like speech and language therapists can also be useful, especially for patients that are non-communicative, because finding new ways for patients to ‘talk’ to those around them is necessary.
Additional Duchenne Muscular Dystrophy Treatment Options
In some cases, surgery may be necessary to fix scoliosis or muscle damage in patients. It is understandable, though, that many parents and carers would want to prevent the need for surgery whenever possible by utilizing other potential treatment options first. More research is currently underway, too, exploring new Duchenne muscular dystrophy treatment options that are non invasive, or less invasive than surgical intervention For example, Exon skipping is considered one of the up and coming therapies that may be extremely useful for patients living with Duchenne muscular dystrophy. While not yet widely available or used, current and planned future clinical trials continue to solidify such therapies and their uses as beneficial for DMD patients.
Duchenne Muscular Dystrophy Awareness Week is February 13th-18th, 2020
Duchenne Muscular Dystrophy Awareness Week is meant to bring attention to this disease and to the people that have received the diagnosis. While it should be considered throughout the year, this week raises awareness about a rare disease that significantly changes the lives of many parents and their children. During this week, donations are encouraged as the scientific and medical communities continue to improve current treatment plans for Duchenne muscular dystrophy while exploring new treatment options. Without these donations, the amount of research and effort that can be focused on this condition will dwindle, which is not the outcome that people want.
Awareness for a condition like this will make it possible for those that are living with Duchenne muscular dystrophy to remain hopeful that more headway will be made in the future. The DMD diagnosis is only the beginning for patients – they also need to consider treatment, future management of the condition and the best ways to live their lives without letting DMD define them. Living with a condition like this will present struggles, for sure, but with the right guidance and treatment from medical professionals and loved ones, DMD patients can still lead the lives that they want to.
There are plenty of ways that children and young adults that have received this diagnosis can participate in daily life. In some schools and communities, there are sports leagues and teams that offer adapted play, which makes it possible for those in wheelchairs or without high levels of coordination or movement to participate. Basketball, baseball – even skiing, surfing and hockey are all options, if people are interested. Simply having these options available is a step in the right direction, because it means that even those without a DMD diagnosis are aware of the needs of those that have one. By showing that treatment works, that the funding is going to the right places, and that work is being done to help these patients, it can encourage more people to follow suit.
It is important to recognize signs and symptoms of DMD in addition to seeking out physical therapy treatment earlier rather than later in order to get a jump start on managing the disease. At BetterPT, we can help you find the right physical therapist for you and your family if there is a DMD diagnosis. By using our website or app you will be able to easily find a PT with specific specialization near you. That way, your family can – and will – get the best care possible from the get go. Duchenne muscular dystrophy physical therapy treatment may not be the only one that you or your child will need, but it is an essential part of managing the condition and improving bodily – as well as mental – strength.