Muscular dystrophy (MD) is a group of genetic conditions that are characterized by weak muscles that get progressively weaker with age. MD mainly affects the skeletal muscles, but in some cases muscles of the heart and bowel are also affected. In some children, their intelligence is also affected.
Duchenne muscular dystrophy (DMD) is the most common and most serious form of MD. DMD mainly affects boys and appears before 5 years of age. DMD is characterized by muscle wasting and poor walking ability. Most boys with DMD end up completely dependent on wheelchairs by 13 years of age and will eventually have difficulty breathing.
Other forms of MD can be much less severe. There is no cure for MD, but medications and therapy can improve your child’s quality of life.
What are the signs and symptoms of muscular dystrophy?
Signs and symptoms differ for every child. Symptoms depend on the type of MD. The main symptom of MD is weakness of the affected muscles. This weakness may cause your child to:
- walk later than most children the same age (over 18 months of age)
- waddle
- have difficulty climbing stairs
- fall easily
- unable to jump
- enlarged calf muscles
- walking on toes
- weakness of the shoulders and arms
- inward curvature of the lower spine
- difficulty getting up after falling
- weakness of other muscles like the shoulder or face
What causes muscular dystrophy?
MD is due to a defective gene. The genetic mutation is passed on from one or both parents to a child.
With DMD, the defective gene is carried by the mother. A boy born to a woman who carries the DMD gene has a 50% chance of having the disorder.
Other types of muscular dystrophy can be inherited through the mother, father, or both parents. In today’s age, with appropriate genetic testing, a conclusive answer can be found for most cases.
What a doctor can do to help your child with muscular dystrophy
Once an MD diagnosis is confirmed, your child will be referred to therapists for supportive treatment.
- Physiotherapy may help to stretch your child’s muscles and ensure gait is supported.
- Occupational therapy can assist in daily living activities and upper limb function.
- Orthotics can help with aids like braces and splints.
- Involvement of other specialists like endocrinologists, orthopaedics and lung physicians may be important.
- Steroids are recommended when the child with DMD starts having difficulty walking and can be continued for optimal upper limb and respiratory functioning. They have side effects like thinning of bones which would need monitoring and treating under the guidance of endocrinologists.
- Newer medications and gene therapies are available in the western countries, and some research has been initiated in India as well. For further information and to be sign- posted to the right centre, discussion with the pediatric neurologist is essential.
As the condition progresses, your child may need assistance moving and breathing. Wheelchairs and home-ventilators are common aids used to help adolescents with MD.
What you can do to help your child?
Ask for guidance and assistance from the team of medical specialists working with you and your family. Since children with MD pass through different stages, it is important to have good communication and support from your medical team.
You may need to help your child with physical therapy to improve flexibility. You may have to teach your child how to use a wheelchair, braces, or scooter so they can be mobile. Eventually you may have to set up a ventilator to help your child breathe.
Whenever possible, try to give your child independence and the ability to enjoy social situations with other children. It may be helpful to other children at school if they learn about MD from you, the teacher, or a school nurse.