Diagnosis & Early Ambulatory (Childhood)
Duchenne is typically diagnosed between the ages of 2 and 7, 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.
Steroids (corticosteroids) are the only medications approved to treat Duchenne. They may act to slow down the progression of muscle deterioration. They are different from the anabolic steroids that are sometimes misused by athletes who want to become stronger. It is recommended to start steroids when a child is in the “plateau phase” when the child’s motor skills are not improving anymore but have not yet gotten worse. This is usually between ages 4-6 years.
Taking steroids may cause many side effects. Side effects should be monitored and addressed at each visit with your neuromuscular provider. 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.
Muscle and Joint Care
Children at this stage are very busy and active. Exercise in children in this age range can be beneficial and keep them active. However, some types of exercises should be avoided in Duchenne. Talk to your physical therapist and neuromuscular team about which exercises and activities are safe for your child.
Starting when young, stretch your child’s muscles and joints at least 4 to 6 times a week. There are braces and splints (orthoses) that can help keep a child’s hands, feet, knees, and back in the correct position. Stretching and orthoses can help delay and minimize joints becoming locked in one position (contractures). Ask your doctor and physical therapist about helpful stretches to do and about using orthoses.
Children in the early phase of Duchenne usually do not have problems with their heart, but regular heart checks are very important. 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). 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. 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.
Learning & Behavior
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.
As your child gets older, it is likely that he/she will need more help than many of their peers. Helping your child and other family members to become comfortable with your care team early can give them the added support they need.
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.