For a parent to hear that their child has Muscular Dystrophy is a tough moment. Muscular Dystrophy involves the progressive loss of muscle and starts affecting children from an early age. Patients with Muscular Dystrophy will eventually require significant support to perform daily activities, which is why early diagnosis is so important. Here, we provide an introduction to what Muscular Dystrophy looks like and the way in which it progresses.
Understanding Muscular Dystrophy
Muscular Dystrophy refers to a group of conditions that leads to progressive muscle weakness. It occurs due to a defect in the genes that control muscle formation. Each patient will experience the symptoms in their own way, with the first signs arising in infancy or early childhood. The cause of Muscular Dystrophy is a change in the dystrophin gene, which is responsible for making the dystrophin protein that enables muscles to contract and relax without pain. Without enough dystrophin, there is muscle damage and loss of muscle cells. Muscular Dystrophy may be hereditary or arise out of spontaneous random gene mutations. The most common subtype of the condition is Duchenne Muscular Dystrophy (DMD).
Stages of Muscular Dystrophy
Doctors most commonly classify the progression of Muscular Dystrophy into three stages.
Early ambulatory
Stage 1 of Muscular Dystrophy generally occurs when the child is between 2 and 5 years of age. The child may reach developmental milestones like walking or crawling later than other children, complain frequently of aching muscles, and may take a long time to get up from a seated position. Some parents may not even notice the symptoms at this stage. As the child gets closer to 9 years of age, they may develop an unsteady gait or walk on their toes. Some children may also have speech delays.
Late ambulatory
Stage 2 of Muscular Dystrophy occurs during late childhood or early adolescence. By this stage, muscle weakness will start to affect the lower limbs and trunk, making movement difficult for the child. Apart from physical therapy regimes, they will likely require leg braces and later a wheelchair to get around. They will also have an increased tendency to fracture, owing to having weak bones. Another common symptom is scoliosis that develops due to the trunk muscles becoming weaker.
Non-ambulatory
Stage 3 occurs during the late teens and early adulthood, which is when patients gradually lose control of their arms and legs and require motorized wheelchairs to move around. This is also when patients become susceptible to complications like cardiomyopathy, which affects blood circulation and can also cause arrhythmia (irregular heartbeat). Muscular atrophy can also affect the ribcage, which could lead to pneumonia or respiratory failure.
Treating Muscular Dystrophy
This condition is progressive and has no cure, but early detection and treatment of Muscular Dystrophy can help alleviate the symptoms. It is important to work with a healthcare team and determine the best treatment options for each stage of the condition. Some options that the doctor might recommend include:
- Stretching exercises to improve range-of-motion and joint flexibility
- Low-impact exercise like walking or swimming to improve cardiovascular health and general mobility
- Mobility aids like walkers and wheelchairs to get around safely
- Braces to keep the tendons and muscles stretched and reduce contractures
- Breathing assistance such as a sleep apnea device to support weak respiratory muscles
- Surgery to correct deformities caused by severe contractures
- Stem Cell Therapy can halt the progression of the disease which can prevent further complications of the disorder
As the patient grows older, they will have to start looking into comprehensive care and making the necessary adjustments in their professional and personal lives. Since complications in the heart, bones, respiratory system, and digestive system are common, getting regular check-ups is vital.
Living a life with Muscular Dystrophy can be hard, but it is highly manageable with the right treatment. It’s important for the patient to have a strong support system and to seek counseling if necessary to cope with the ups and downs. With time, practice, and patience, you can lead an active and socially fulfilling life.
