Logan Steele
Muscular dystrophy (MD) is a group of inherited diseases that cause progressive weakness and degeneration of skeletal muscles. It occurs when certain genes involved in making proteins that protect muscle fibres are defective. This results in a loss of muscle strength and wasting away of muscle tissue. While there is no cure for MD, drug therapy, physical therapy, and occupational therapy can help manage symptoms and slow the course of the disease. Other neuromuscular disorders that cause muscle deterioration include inflammatory myopathy, progressive muscle weakness, and cardiomyopathy.
| Characteristics | Values |
|---|---|
| Name of disease | Muscular dystrophy (MD) |
| Type of disease | A group of inherited or genetic diseases |
| Cause | Abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle |
| Symptoms | Progressive muscle weakness, loss of muscle mass, trouble walking, trouble using arms, shortening of muscles or tendons around joints (contractures), breathing problems, curved spine (scoliosis), heart problems, swallowing disorder |
| Diagnosis | Medical and family history, checking reflexes and muscle strength, diagnostic tests |
| Treatment | Drug therapy, steroids, immunosuppressive drugs, physical therapy, occupational therapy, surgery |
| Prevention | Cannot be prevented but can be managed with medications and therapy |
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What You'll Learn
Duchenne muscular dystrophy (DMD)
DMD is one of the most severe forms of inherited muscular dystrophies and is the most common hereditary neuromuscular disease. It affects many parts of the body, resulting in the deterioration of skeletal, heart, and lung muscles. The disease progresses differently for each person, even among siblings with the same mutation. Muscle loss is typically first noticed in childhood, with loss of strength, function, and flexibility in the hips, thighs, shoulders, and pelvis. As the disease advances, these losses progress to the arms, lower legs, and trunk. Cardiac and orthopedic complications are common, and death usually occurs in the twenties due to respiratory muscle weakness or cardiomyopathy.
There is currently no known cure or treatment modality that can halt the progression of DMD. Available treatment options are palliative, focusing on glucocorticoids and physiotherapy to prevent orthopedic complications. In recent years, the FDA has approved several "exon-skipping" drugs that target specific sections of DNA for the treatment of individuals with confirmed mutations of the DMD gene. These drugs may help up to 8% of individuals with DMD.
The progression of symptoms in DMD varies, ranging from late onset with very mild symptoms to early onset with severe symptoms. Regular visits with a neuromuscular team are crucial to monitor the progression of the disease and determine the most appropriate treatment options. While there is no cure, early and regular intervention can help manage symptoms and slow the course of the disease.
DMD is a debilitating and life-limiting disease that significantly impacts the lives of those affected and their families. The lack of a cure underscores the urgency of ongoing research into genetic therapies and new medications to improve treatment options and patient outcomes.
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Becker muscular dystrophy
There are several diseases that cause deterioration of muscles, including muscular dystrophy and neuromuscular disorders. Muscular dystrophy is a group of inherited diseases that cause weakness and wasting away of muscle tissue. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of disease. The most common type of muscular dystrophy is Duchenne muscular dystrophy, followed by Becker muscular dystrophy.
Diagnostic tests for BMD include genetic blood tests that can reveal the gene mutation responsible and measure the presence of creatine kinase, an enzyme that forms when muscle tissue breaks down. Muscle biopsies and electromyograms can also be used to diagnose BMD. Magnetic resonance imaging (MRI) is a useful tool for both diagnosis and progress assessment, as it can visualise muscle loss and damage.
There is currently no cure for BMD, but medications and therapy can help manage symptoms and slow the course of the disease. Doctors may prescribe steroid medications to help individuals remain able to walk for as long as possible, and physical and occupational rehabilitation can be used to design exercise programs and teach stretching activities to minimise contractures, which are hardened or deformed joints caused by contracting muscles and tendons.
Complications of progressive muscle weakness in BMD include trouble walking, difficulty with daily activities, shortening of muscles or tendons around joints (contractures), breathing problems, curved spine (scoliosis), and heart problems. Heart failure is a frequent complication of BMD, and if left unaddressed, can lead to the need for a transplant.
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Neuromuscular disorders
There are many neuromuscular disorders, and they can be inherited or caused by a spontaneous gene mutation. Some neuromuscular disorders are autoimmune diseases, and sometimes the cause is unknown. Many neuromuscular disorders have no cure, but treatments may improve symptoms, increase mobility, and lengthen life. Treatment is typically carried out by an experienced multidisciplinary team and may include medications, physical therapy, occupational therapy, and, when necessary, surgery. Research is being done on genetic therapies and new medications in hopes of finding a cure.
Some symptoms common to neuromuscular disorders include muscle weakness that can lead to twitching, cramps, aches, and pains. Some neuromuscular disorders have symptoms that begin in infancy, while others may appear in childhood or even adulthood. Symptoms depend on the type of disorder and the areas of the body that are affected.
One example of a neuromuscular disorder is muscular dystrophy, which is a group of inherited diseases that cause weakness and wasting away of muscle tissue. There are multiple types of muscular dystrophy, each leading to loss of strength, increasing disability, and possible deformity. The most common type is Duchenne muscular dystrophy, followed by Becker muscular dystrophy. Muscular dystrophy can cause trouble walking, difficulty using arms, shortening of muscles or tendons around joints (contractures), breathing problems, a curved spine (scoliosis), and heart problems.
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Muscle atrophy
There are three types of muscle atrophy: physiologic, pathologic, and neurogenic. Physiologic atrophy is caused by not using the muscles enough, often due to seated jobs, health problems that limit movement, or decreased activity levels. This type of atrophy can often be reversed with exercise and better nutrition. Pathologic atrophy is seen with aging, starvation, and diseases such as Cushing's disease, which is caused by taking too much medication in the form of corticosteroids or having overactive adrenal glands.
Neurogenic atrophy is the most severe type of muscle atrophy. It is caused by an injury to, or disease of, a nerve that connects to the muscle. This type of atrophy can occur more suddenly than physiologic atrophy. Examples of diseases affecting the nerves that control muscles include amyotrophic lateral sclerosis (ALS), carpal tunnel syndrome, Charcot-Marie-Tooth disease, and myositis such as inclusion body myositis. In addition, damage to neurons in the brain or spinal cord can cause prominent muscle atrophy, which can be localized or widespread, as in the case of traumatic brain injury or cerebral palsy.
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Drug therapy
Muscle-deteriorating diseases include muscular dystrophy, neuromuscular disorders, and muscle atrophy. While there is currently no cure for muscular dystrophy and neuromuscular disorders, drug therapy and other treatments can help manage symptoms and slow the course of the disease.
Medications and therapy can help manage symptoms and slow the progression of muscular dystrophy. However, there is currently no cure for this disease. Muscular dystrophy is a group of inherited diseases that cause progressive weakness and loss of muscle mass due to abnormal genes (mutations) that interfere with the production of proteins needed to form healthy muscles. The most common type is Duchenne muscular dystrophy, which usually occurs in young boys. Symptoms of muscular dystrophy include trouble walking, difficulty with daily activities that require arm movement, shortening of muscles or tendons around joints (contractures), breathing problems, a curved spine (scoliosis), and heart problems.
Neuromuscular disorders affect the nerves that control voluntary muscles and the communication of sensory information back to the brain. While there is currently no cure for neuromuscular disorders, research is being done on genetic therapies and new medications to find a cure. Treatment for neuromuscular disorders typically involves a multidisciplinary team and may include medications, physical therapy, occupational therapy, and surgery to treat symptoms, delay disease progression, and enhance patients' quality of life.
Muscle atrophy, or muscle wasting, can be treated with drug therapy, physical therapy, and improved nutrition. The specific treatment depends on the type of muscle atrophy. For example, neurogenic atrophy can be treated with a special kind of physical therapy called electrical stimulation, where small electrical impulses are sent to the nerves and muscles to help maintain muscle mass and strength. Ultrasound therapy, which uses sound waves to promote muscle healing, may also be recommended. In terms of drug therapy, Infliximab has been shown to reverse inflammatory muscle wasting (sarcopenia) in Crohn's disease, and anti-TNF-α therapy has been associated with bone and muscle accrual in pediatric Crohn's disease. Additionally, long-term therapy with Bendavia (MTP-131), a mitochondria-targeting peptide, has been found to normalize skeletal muscle fiber type composition in dogs with chronic heart failure.
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Frequently asked questions
Muscular dystrophy (MD) is a group of inherited diseases that cause progressive weakness and degeneration of skeletal muscles.
The symptoms of muscular dystrophy include trouble walking, trouble using arms, shortening of muscles or tendons around joints (contractures), breathing problems, a curved spine (scoliosis), and heart problems.
Muscular dystrophy occurs when certain genes involved in making proteins that protect muscle fibres are defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.
There is currently no cure for muscular dystrophy. However, medications, physical therapy, occupational therapy, and surgery can help manage symptoms and slow the course of the disease.
