This is one in an occasional series about children’s health issues. We know that many of our readers are grandparents keenly interested in the health and well-being of grandchildren. We hope this series will provide readers useful health information you can share with your family.
Researchers are actively investigating several approaches to stop or reverse the muscle damage caused by a form of muscular dystrophy called Duchenne (DMD), which accounts for about 60 percent of cases. Many of the strategies involve genes – inserting new genes, changing mutated genes, and changing the way cells interpret genetic instructions.
There is no treatment to stop or reverse DMD or any form of muscular dystrophy at present, which makes this research all the more compelling. Dr. Taher Husainy, a neurologist with offices in Vero Beach and Sebastian, says that in recent years there have been numerous attempts at gene modification. “There has been some short-term improvement in some cases, but not what we would call success [so far],” he says.
The new research scientists hope will change that is funded by the Muscular Dystrophy Association, a nonprofit health agency dedicated to finding treatments and cures for muscular dystrophy, amyotrophic lateral sclerosis (ALS) and other related diseases.
DMD s the most severe form of the muscular dystrophy; it is caused by the absence of a protein called dystrophin; when present, dystrophin helps keep muscle cells intact. The genetic research into DMD includes:
• Gene repair. This approach focuses on helping cells fix the underlying problem by permanently repairing the errors in the dystrophin gene.
• Gene therapy. Also called gene transfer, this strategy uses genes as a therapeutic agent; the hope is this will lead to the production of dystrophin.
• Altering the genetic code. Called “exon skipping,” this approach uses molecules to ignore certain genetic instructions, to allow for the creation of dystrophin.
The main sign of all forms of muscular dystrophy is progressive muscle weakness. Symptoms of DMD usually appear between the ages of 2 and 4, and may include:
• Frequent falls
• Difficulty getting up from a lying or sitting position
• Trouble running and jumping
• Waddling gait
• Walking on the toes
• Large calf muscles
• Muscle pain and stiffness
• Learning disabilities
For chromosomal reasons, while females can be carriers, the disease itself only affects males, with an incidence rate of about 1 in 3000 boys. DMD often runs in families, but in some unexplained instances the dystrophin gene mutates on its own. Until relatively recently, the lifespan of those with DMD was not much beyond 20; thanks to medical advances in cardiac and respiratory care, survival into the early 30s is becoming more common.
While DMD is the most common form of child-onset muscular dystrophy, there are others, each with its own characteristics, in addition to the progressive muscle weakness that is present in all forms of the disease. All of the other types together account for about 40 percent of cases; those types include:
• Becker. Symptoms are similar to DMD, but are typically milder and progress more slowly; they also appear later – in the teens, 20s, or even later.
• Myotonic. Also known as Steinert’s disease, this form is characterized by an inability to relax muscles at will following contractions. Facial and neck muscles are usually the first to be affected. It is the most common form of adult-onset muscular dystrophy, but it also appears in older teens. Dr. Husainy says this form is not as debilitating as DMD, and those affected can sometimes remain ambulatory into their 40s.
• Facioscapulohumeral (FSHD). Onset usually occurs in the teenage years but may begin in childhood or as late as age 40. Muscle weakness usually begins in the face and shoulders; the person’s shoulder blades might stick out like wings when they raise their arms.
• Congenital. This type is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
• Limb-girdle. Onset usually begins in childhood or the teenage years. Hip and shoulder muscles are usually the first affected; people with this type of muscular dystrophy may have difficulty lifting the front part of the foot, leading to trips and falls.
Treatments are geared to improving the quality of life of young sufferers and often include physical therapy. MoveForwardPT.com is the official consumer information website of the American Physical Therapy Association; they offer the following guidance:
• Passive and active stretching. Your physical therapist will assist you and your child in increasing joint flexibility (range of motion) and preventing or delaying the development of contractures. Passive stretching should not be painful.
• Maintaining strength. Your physical therapist will teach you and your child exercises to maintain muscle and trunk strength and to use good posture and body mechanics throughout the lifespan. The therapist will identify games and fun tasks that promote strength.
• Exercises for breathing. The physical therapist may provide a program to maintain good respiratory strength, or may work with respiratory therapists or speech therapists in designing such a program.
• Improving developmental skills. Your physical therapist will help your child learn to master motor skills, such as crawling, getting up to standing, walking, and jumping. Your therapist will provide an individualized plan of care that is appropriate based on your child’s developmental level and motor needs.
• Foster physical fitness and activity. Your physical therapist will assist in determining the specific exercises, diet, and community involvement that will promote good health. When needed, mobility aids, such as wheelchairs, splints and braces, and home devices may be prescribed to help maintain mobility.
Dr. Husainy agrees that exercising the muscles is important. “A small percentage of muscle fibers may still be normal, and training them to work better is helpful. But overdoing it is not good, as it could speed the death of the healthy muscle fibers.”
There are also medications to help slow or control the symptoms of muscular dystrophy, including glucocorticoids (a type of steroid) to increase muscle strength, antibiotics to treat respiratory infections, anticonvulsants to help control spasms, and immunosuppressants, which may help delay damage to dying muscle cells. All medications have side effects, which parents should discuss with their child’s doctor; together, a decision can be made if the potential benefits outweigh the risks.
As is the case with any serious condition, especially those involving children, a team approach is highly recommended. In addition to the child’s primary care physician and physical therapists, specialists such as neurologists are often brought into the mix, as well as professionals who can provide nutritional guidance.
Even if the young person seems emotionally healthy, the psychological impact of having such a potentially devastating disease should not be ignored or minimized, and it’s suggested that a relationship with licensed counselor be established.
Dr. Husainy says, “The genetic research is continuing. There have been interesting studies involving stem cells. We are hoping for a breakthrough.”
Dr. Husainy’s Vero Beach office is located at 787 37th St. #E210; the phone number is 772-770-0808. His Sebastian office is located at 13840 US Highway 1; the phone number is 772-589-4400.
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