Diagnosis & Early Ambulatory (Childhood)
Duchenne is typically diagnosed between the ages of 2 and 5, usually after delays in early milestones, such as sitting, walking, and/or talking, are noticed. Speech delay and/or the inability to keep up with peers will often be the first signs of this disorder. Care in this stage is aimed towards prevention of progression and maintaining strength and function of the muscles.
IMPORTANT INFORMATION FOR ALL STAGES
If your child is taking steroids, it is imperative they are not stopped suddenly for any reason. This puts them at risk for an adrenal crisis, which is a life-threatening condition.
- Children with Duchenne typically move slower, differently, or with more difficulty than other children the same age.
- Children with Duchenne may appear to be clumsy, fall frequently, and have difficulty climbing, jumping, or running.
- Because people with Duchenne have muscle weakness, they become tired more easily and may have decreased energy. A child may ask to be carried frequently or to sit in a stroller for longer distances.
- Some of the muscles (in particular the calves) may appear enlarged or overdeveloped. This happens because muscle cells become damaged and are replaced by scar tissue, called fibrosis.
- Fibrosis of the muscle may make the child less flexible and lose elasticity in the joints. Because the onset of physical symptoms may be hard to recognize, it can be difficult for parents to accept or believe that their child has the diagnosis of Duchenne. During this phase (often known as the “plateau phase”), a child may appear to be improving. This phase is short lived (1-2 years), and after this phase, motor skills get worse.
Everyone needs a primary care provider (PCP). This is typically a pediatrician, family practice physician, nurse practitioner, or internist who will serve as your child’s “medical home.” After the diagnosis of Duchenne is confirmed by a neuromuscular specialist (NMS), information and resources should be sent to your PCP about Duchenne. An going medical relationship with the PCP will provide a continued, much-needed resource of stability and support.
Your child’s NMS will lead the management of your child’s Duchenne. Your child’s PCP will remain your first-line care provider for routine childhood well and sick care. During childhood, the PCP will evaluate developmental milestones, conduct annual hearing and vision screening, annual physical and mental health exams, and ensure vaccinations are given on a schedule. Your PCP will be able to communicate and collaborate with your child’s neuromuscular team to ensure your child receives comprehensive care.
Your NMS will use standardized assessments at each visit to evaluate your child’s physical symptoms and track changes closely. Your NMS is very educated on the natural history of Duchenne, which is how Duchenne progresses over time. Your NMS will use this assessment information to select therapies that are custom to your child’s current needs, as well as directed towards what they anticipate happening in the future.
One of the first therapies your NMS may mention is Steroids (corticosteroids). These steroids are different from the anabolic steroids that are sometimes misused by athletes who want to become stronger. Steroids are the only medications approved to treat Duchenne patients regardless of mutation and are known to help slow down muscle damage and weakness caused by Duchenne. Studies have shown steroids may extend ambulation by 2-3 years, as well as, preserve pulmonary function.
Experts in the field agree it is best to start steroids before the “plateau phase,” meaning when your child’s motor skills are not improving anymore but have not yet gotten worse. This is typically around age 4-5 years.
The decision to initiate steroids should not be made without extensive education by your NMS. While the benefits of steroids have been extensively documented, there are many side effects that you should be made aware of before starting steroids. In addition, there are multiple dosing regimens that your NMS may discuss. The two most common regimens in the US are doses given at the same time daily, or higher doses given only two days/week, also referred to as “weekend dosing.” Be sure to discuss these options with your NMS.
It is important not to be discouraged if your child begins to show side effects of steroids. Your NMS can offer many remedies for these side effects, and can also try adjusting the dose or dosing schedule to offset these effects while still providing the therapy. A child who is taking steroids may be more likely to get sick. Make sure your child gets a ﬂu and pneumonia shot to avoid these common illnesses.
If your child experiences undesirable side effects, it is imperative that you never stop taking steroids abruptly. Steroids provide the body with the hormone cortisol, known as the stress hormone. When your child is on steroids, their body stops producing cortisol naturally. If your child abruptly stops taking steroids, it takes the body several months to begin to produce cortisol again. The lower-than-normal level or absence of cortisol can cause what is known as adrenal insufficiency. This can lead to an adrenal crisis, which is a life-threatening emergency. Your NMS will counsel you about what to do in this situation as well as provide education about stress dosing of steroids when indicated. Additional information about preventing adrenal insufficiency can be found in the PJ Nicholoff Steroid Protocol.
MUSCLE AND JOINT CARE
Your rehabilitation team, which will include a physical therapist (PT) and sometimes a Physical Medicine and Rehabilitation (PM&R) doctor, will be important moving forward. Even if your child is showing mild to no physical symptoms, it is important to be proactive with care.
Stretching and orthoses can help delay and minimize joints becoming locked in one position (contractures). Gradually introducing stretching regimens can keep muscles flexible and can decrease tightness at the joints. This can help maintain movement in the joint and decrease pain or cramping of the muscles. Your rehabilitation team will advise on stretching regimens that are specific to your child. Eventually, stretching should be a part of your daily routine.
Your rehabilitation team may recommend night splints (also known as AFOs) at an early age. Night splints are great for maintaining flexibility of the Achilles tendon as well as hold the foot in a comfortable position. These are made of light plastic, and are made specifically to fit your child’s foot. Some parents find it difficult to get their toddler or young child to wear these overnight. Your child may be able to choose patterns, designs, and colors of these splints, which may be helpful in acceptance. Starting early and regularly wearing night splints will help your child get used to them over time.
Children at this stage are very busy and active. Exercise in children in this age range can be beneficial and keep them active, and it is important to discuss safe play and exercise with your rehabilitation team. However, some types of exercises should be avoided in Duchenne, such as jumping in a bouncy house or trampoline. Talk to your physical therapist and neuromuscular team about which exercises and activities are safe for your child.
growth and nutrition
Your child’s standing height and weight should be measured at each neuromuscular care team visit. This information will be tracked on a growth chart. This allows your child’s care team to detect any problems with weight gain or loss, as well as track growth.
It is important for your child to have a nutritional assessment at the time of diagnosis and/or when starting steroids. It may be suggested your child see a Registered Dietician Nutritionist (RDN) if they are found to be nutritionally deficient in any way. Their job is to assess current dietary habits as well as make recommendations to optimize health and growth as well as to avoid undesirable side effects of steroids.
Maintaining good nutrition is a family event, and is essential from diagnosis throughout life. Providing a healthy, well-balanced diet with a full range of food types is necessary for everyone. Extra attention to diet may be required at diagnosis and/or when steroids are started. Steroids may cause your child to feel hungrier, potentially causing them to over eat. This can cause too much weight gain, which is not healthy for any child and may need to be addressed by an RDN. The RDN can give you helpful tips on what to do if you experience this and how to prevent your child becoming overweight.
Steroids also put children at risk for weak or frail bones. Your RDN can review your child’s diet to make sure they are getting enough vitamin D and calcium in their diet. Your neuromuscular team should check your child’s vitamin D blood level yearly. If the vitamin D level is found to be low, or your child’s diet is felt to be deficient in calcium, your RDN may advise supplements or increased levels in your child’s diet. Vitamin D and calcium are both important to maintain strong bones and lessen your child’s risk for fractures.
learning, behavior & speech
Some, but not all, children with Duchenne have learning and behavior problems. If you or your child’s teacher suspect any learning delays, your child should be screened by a professional. Children with Duchenne are more likely to have difficulties with language (such as responding to questions or expressing himself) and learning to read.
Behavior problems are quite common in all young children, and children with Duchenne are no different. However, young children with Duchenne may have more difficulty with impulsivity and emotional control than other children their age. They are also more likely to be rigid and inflexible in their thinking, which can result in stubbornness or arguing. They may have difficulty with change or resist new routines. Additionally taking steroids may have an impact on their behavior, such as making them more emotional and active than normal.
If you notice one or more of these issues, take your child to a professional who specializes in neuropsychological or psychological testing. This person can do tests to identify learning, behavioral, or emotional issues (or risk factors for developing them) and can help you come up with a management plan. Ideally, this testing should be done around the time your child is diagnosed, as they start school (ages 5-6), or any time new concerns arise.
Depending on your child’s needs, there a number of interventions that may help. Examples include psychotherapy (individual or group counseling, parent training, family therapy, and applied behavior analysis), academic therapies and Special Education, social skills training, and medication. PPMD also offers resources to help navigate your child school’s Individualized Education Program (IEP) and 504 plans to ensure your child is receiving the resources they need.
If your child has a speech or language delay, your PCP or NMS can refer you to a speech language pathologist (SLP). A SLP can work with your child to improve any issues they have with speech.
PPMD also has a resource page for managing challenging behaviors in young children living with Duchenne.
Children in the early phase of Duchenne usually do not have problems with their heart, but regular heart checks are very important. In Duchenne, the heart muscle, just like the skeletal muscle, is affected by the lack of dystrophin. Your child’s heart should be checked when the diagnosis of Duchenne is made, and then once a year after. The cardiologist may change this schedule based on heart test results and require exams more frequently.
In Duchenne, the heart is affected before heart symptoms appear (cardiomyopathy). Cardiac monitoring, including an electrocardiogram (ECG) and cardiac MRI and echocardiogram, is recommended at diagnosis and then annually. Your child may need to start heart medications even if there are no symptoms of heart problems. Keep a copy of your child’s latest heart tests to show all of the healthcare providers who care for your child. Other treatments for Duchenne, such as steroids, may affect your child’s heart.
Children in this stage usually do not have any problems breathing. However, it is important to take your child to a pulmonologist to have a breathing test called a pulmonary function test at least once a year. Although it may be difficult to get your child to cooperate for this test, it is valuable for the pulmonologist to collect baseline measurements. Additionally, with each subsequent visit to the pulmonologist your child will improve their ability to do the testing. Keeping a copy of your child’s latest breathing tests to show other healthcare providers is a good idea.
Ensure your child gets all of the recommended childhood shots. If your child gets sick, especially with a cold or chest infection, make sure your child receives antibiotics, extra breathing tests, and extra help coughing. Your child’s lung function should also be tested before any type of surgery.
PPMD has developed a series of videos to raise awareness about pulmonary care in Duchenne. The first video in the series explains what to do at your first pulmonologist visit. This may be helpful for you to watch as well as your child before your appointment.
It is important to know what to do in the event your child becomes sick or injured, requiring a visit to the emergency room or hospitalization. More often than not, the emergency room staff may not have extensive experience treating people with Duchenne. If your child is in the emergency room, it is best to personally call your neuromuscular team to let them know and NOT to rely on the emergency room staff to do so. Make sure you have all necessary information with you to show the emergency room clinicians in case of a medical emergency. There are two easy ways you can keep this information with you at all times:
- PPMD Smartphone App: If you have an Apple or Android smartphone, you can download the Parent Project Muscular Dystrophy App and access this emergency care information right from your phone.
- PPMD Emergency Cards: Click here to obtain a copy of our wallet-size emergency information card or large emergency information card to attach to backpacks and scooters.
Safety and Prevention
The best advice to stay out of the emergency room is prevention. Below are some tips to prevent emergencies from happening:
- Keep scheduled immunizations up to date and have the flu shot every year, lowering the risk for more severe forms of illnesses that may result in a hospital stay
- Prevent falls by keeping your child’s path clear (remove throw rugs, cords, etc.) and take care on even surfaces (i.e. wear non-slip shoes)
- Ensure that your child always wears their seatbelt, both in the car and while riding any type of scooter or assistive device
- Children with Duchenne tire more quickly than peers, and while post children are good at self-limiting their activity so that they don’t overtire, it is important to allow more rest periods so they do not injure themselves trying to “keep up”
CARING FOR YOUR FAMILY
The diagnosis of Duchenne is not easy for parents. Take care of yourselves, as well as your child. Couples or family counseling during this stage is helpful for many parents and families.
At this stage, your child’s genetic counselor or neuromuscular provider may suggest carrier testing to the females in your family. Carrier testing is important because it can impact your health as well.
Females who carry the mutated Duchenne gene have a small risk for health problems. Potential symptoms may include changes in heart function, skeletal muscle symptoms, and psychosocial issues such as anxiety or learning disabilities. When young girls or women manifest these symptoms, they are considered to be females with dystrophinopathy, more commonly termed manifesting carriers. All female carriers of Duchenne should be evaluated by a healthcare provider familiar with Duchenne.
Young Females with Dystrophinopathy
Although rare, there are families with affected young girls in our Duchenne community. While there is limited information available about this population, we are working to raise awareness and improve care for all females carriers. Young girls with symptoms occur on a spectrum of severity ranging from mild balance impairment or muscle fatigue to more severe weakness and learning disabilities. In this case, girls and young women should be evaluated and followed by a comprehensive neuromuscular center, just like boys with Duchenne.
Please note, the decision to test young sisters of boys living with Duchenne remains a family decision, especially if the sister is under the age of consent. However, we do recommend bringing any concerns about delayed developmental milestones, skeletal muscle weakness, cognitive or behavioral issues to your son’s neuromuscular provider. If symptoms of dystrophinopathy are identified, then follow-up with CK testing and genetic testing is recommended.