Entering the age of 2 years, almost most children will start to actively explore their surroundings. However, there are some who appear lethargic due to muscle weakness in their bodies. This condition could be due to a congenital disorder called Duchenne muscular dystrophy ( DMD).
DMD was first described by French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. However, until the 1980s, little was known about the causes of any type of muscular dystrophy.
In 1986, researchers supported by the Muscular Dystrophy Association identified a specific gene on the X chromosome, when defective (mutated) leads to DMD. In 1987, the protein associated with this gene was identified and named dystrophin. A deficiency of the dystrophin protein in muscle cells causes the cells to become fragile and easily damaged.
The condition mostly affects boys, but it is possible for girls to develop DMD. DMD usually appears at age 2 to 3, or before the child is 6 years old.
This muscle weakness has quite distinctive symptoms and causes. Recognize from the following explanation!
Definition of Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to changes in a protein (dystrophin) that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.
Three other diseases that fall into this group are:
- Becker muscular dystrophy or Becker Muscular Dystrophy (BMD), this is a mild form of DMD
- Intermediate clinical presentation between DMD and BMD
- Dilated cardiomyopathy associated with DMD (heart disease) with little or no clinical skeletal, or voluntary, muscle disease.
This muscular dystrophy involves muscle weakness that rapidly worsens.
Symptom
Duchenne muscular dystrophy is characterized by weakness and wasting (atrophy) of the muscles of the pelvic region, followed by involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to the trunk and forearms, gradually progressing to involve additional muscles of the body. In addition, the calves appear enlarged in most patients.
Quoting from the pageMedline Plus, symptoms most often appear before age 6. They may begin in infancy. Most boys do not show symptoms in the first few years of life.
Symptoms may include:
- Fatigue
- Learning difficulties (IQ can be below 75)
- Intellectual disability (possible, but does not get worse over time)
However, the National Organization for Rare Disorders (NORD) notes that DMD can be recognized as early as infancy. In children with DMD, early findings may include delays in reaching developmental milestones .
Such as sitting or standing without assistance, walking with toes, unusual and swaying gait, difficulty climbing stairs or rising from a sitting position (Gower’s sign), and repeated falls.
Toddlers and young children may appear clumsy and may exhibit abnormal enlargement of the calves due to scarring of the muscles (pseudohypertrophy) and weakening of the heart muscle.
Parents may be confused by the apparent increase between the ages of 3 and 5. However, this may be due to natural growth and development.
As the disease progresses, additional abnormalities may develop. Such as progressive curvature of the spine (scoliosis or lordosis), wasting of the thigh and chest muscles, and abnormal fixation of certain joints (contractures).
Contractures occur when thickening and shortening of tissues, such as muscle fibers, cause deformity and limit movement of the affected area, especially the joints. Without physical therapy treatment, leg braces may be needed by age 8-9 to help the affected individual walk.
The disease is progressive (goes in stages) and most affected individuals require a wheelchair by adolescence (around age 10 to 12). Serious, life-threatening complications can eventually develop, including heart muscle disease (cardiomyopathy) and breathing (respiratory) difficulties . Breathing difficulties and heart disease usually begin by age 20.
Reason
As the name suggests, Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in muscles). However, it often occurs in people with no known family history of the condition.
The condition most often affects boys because of the way it is inherited. The sons of carrier mothers (mothers with the defective gene, but no symptoms themselves) each have a 50% chance of developing the disease.
Meanwhile, each daughter has a 50% chance of being a carrier. Very rarely, a mother can get the disease.
Risk Factors
A 2017 study published in the Journal of the American Heart Association found that there are 3 main risk factors associated with poor outcomes in patients with DMD.
Among them are low body mass index, poor lung function, and high blood concentrations of proteins associated with heart damage (such as N-terminal pro-brain natriuretic peptide).
Frequency of Occurrence
This genetic disorder is rare. However, it most commonly affects about 1 in 3,500 male births worldwide. It is usually recognized between the ages of three and six.
Diagnosis
A complete examination of the nervous system (neurological), heart, lungs, and muscles may show:
- Abnormal and diseased heart muscle (cardiomyopathy) becomes apparent by age 10.
- Congestive heart failure or irregular heart rhythms (arrhythmias) occur in all people with Duchenne muscular dystrophy by age 18.
- Chest and back deformities (scoliosis).
- Enlargement of the calf, buttock, and shoulder muscles (around age 4 or 5). These muscles are eventually replaced by fat and connective tissue (pseudohypertrophy).
- Loss of muscle mass (wasting).
- Muscle contractures in the heels, feet.
- Muscle deformity.
- Respiratory disorders, including pneumonia and swallowing with food or liquid entering the lungs (in the later stages of the disease).
Tests may include:
Maintenance
Having a child with Duchenne muscular dystrophy means that parents must provide extra care to help them live an active life.
There are several treatments that can be done, according to the pageWebMD, that is:
Get up and walk as often as possible
Standing up straight will keep your child’s bones strong and their spine straight. A standing walker can make it easier for them to stand and get around.
Eat Right
There is no specific diet for children with DMD, but healthy foods can prevent weight problems or help with constipation. Consult a dietitian to make sure your child is eating the right nutrients and calories each day. You may need to see a specialist if your child is having difficulty swallowing.
Stay Active
Exercise and stretching can keep your child’s muscles and joints flexible and help them feel better. A physical therapist can teach them how to exercise safely without overworking them.
Find Support
Other families living with DMD can be a great resource for advice and understanding about living with the disease. Find a support group or communityon line. It may also help parents to talk about their feelings with a psychologist or counselor.
Genetic Therapy
Gene therapy may help certain patients, depending on the genetic cause. Each therapy only works in a small number of patients, depending on their specific mutation. Treatments include:
- Eteplirsen
- Goldilocks
- Vitolarsen
- Casimersen
- Ataluren.
Other Treatments
There is no known cure for DMD. Treatment aims to control symptoms to improve quality of life. Several new treatments are being studied in trials. Steroid medications can slow the loss of muscle strength. They may be started when a child is diagnosed or when muscle strength begins to decline.
Other treatments may include:
- Albuterol – a drug used for asthma sufferers
- Amino acids
- Carnitine
- Coenzyme Q10
- Creatine
- Fish oil
- Green tea extract
- Vitamin E.
However, the effects of this treatment have not been proven. Stem cells and gene therapy may be used in the future.
Steroid use and lack of physical activity can lead to excessive weight gain. Activity is encouraged. Inactivity (such as bed rest) can worsen muscle disease. Physical therapy can help maintain muscle strength and function. Speech therapy is often needed.
Other treatments may include:
- Assisted ventilation (used during the day or night)
- Medications to help heart function, such as angiotensin-converting enzyme inhibitors, beta blockers, and diuretics.
- Orthopedic equipment (such as wheelchairs) to improve mobility
- Spinal surgery to treat progressive scoliosis for some people
- Proton pump inhibitors (for people with gastroesophageal reflux).
Prevention
People with a family history of the disease may want to seek genetic counseling. Genetic studies performed during pregnancy are highly accurate in detecting Duchenne muscular dystrophy .
If Parents or pediatricians see any possible symptoms of Duchenne muscular dystrophy , consult immediately for further treatment. Hopefully the information above can be useful!
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Republished with permission from theAsianParent Indonesia
