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Myopathy is a disease that causes muscle weakness. It is a general term for any disease that affects the muscles that control voluntary movement in the body. Myopathies can be inherited or acquired and can cause difficulty in performing everyday tasks. While there is no cure for genetic myopathy, there are various treatment options available to manage the symptoms. These include medication, physical therapy, surgery, and supportive devices. Treatment plans depend on the type and severity of the disease.
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What You'll Learn
- Treating autoimmune myopathies with drugs like glucocorticoids, mycophenolate, rituximab, and intravenous immune globulin
- Corticosteroid therapy for Duchenne dystrophy
- Stopping exposure to the cause of toxic myopathy
- Physical therapy and supportive devices
- Strength therapies, supportive care, symptomatic therapies, and psychological support
Treating autoimmune myopathies with drugs like glucocorticoids, mycophenolate, rituximab, and intravenous immune globulin
Myopathy is a general term for any disease that affects the muscles that control voluntary movement in the body. It is characterised by muscle weakness, which can affect the thighs, upper arms, shoulders, and even the heart and breathing muscles. Some myopathies are genetic and can be passed down, while others are acquired later in life due to autoimmune diseases, metabolic disorders, or other causes.
For acquired myopathies caused by the immune system, medications that reduce the body's immune response and decrease inflammation are often used to manage symptoms. This includes the use of glucocorticoids, a type of steroid, and other immunosuppressive drugs. In recent times, immunotherapies have been used to treat immune-mediated inflammatory myopathies with glucocorticoids, steroid-sparing immunosuppressive drugs, and intravenous immunoglobulin. While these treatments have shown some effectiveness, a proportion of patients only show a partial response, and novel treatments are being trialled.
Rituximab, a B-cell depleting agent, has been studied in adult and juvenile myositis, showing positive effects in resistant cases. It has been found to be well-tolerated and has shown a trend towards a positive effect. Intravenous immunoglobulin (IVIg) has also been used as an add-on treatment in resistant cases of dermatomyositis with positive results in double-blind crossover trials. Other conventional immunosuppressive drugs used in treatment include methotrexate, azathioprine, mycophenolate mofetil, cyclosporine, tacrolimus, and cyclophosphamide. These drugs are often used alone or in combination when first-line treatments are ineffective.
While there is no cure for genetic myopathy, early diagnosis and a comprehensive treatment plan overseen by a knowledgeable medical team can help manage symptoms effectively. Physical therapy, supportive devices, and surgery may also be used as treatment tools for myopathies.
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Corticosteroid therapy for Duchenne dystrophy
Corticosteroid therapy is the standard of care in treating Duchenne Muscular Dystrophy (DMD). The aim of this treatment is to control symptoms and slow down the progression of the disease through potent anti-inflammatory action. Corticosteroids are used to treat DMD due to their ability to reduce the body's immune response and decrease inflammation.
The preferred dose of prednisone, a type of corticosteroid, is 0.75 mg/kg/day. This has been supported by evidence of its efficacy in motor function, pulmonary function, and cardiac function. However, some medical professionals have expressed concern about this dose, suggesting that it is very high and that serious side effects are inevitable with long-term use. A lower daily dose of 0.3 mg/kg/day is associated with fewer side effects but is less effective.
Prednisolone therapy has been found to prolong ambulation and prevent scoliosis in patients with DMD. In addition, studies have shown that corticosteroid treatment can preserve clinically meaningful functional milestones and reduce the rate of disease progression.
While corticosteroid therapy is the current standard of care, there are novel dissociative steroids, such as vamorolone, that may prove to be superior substitutes. These new-wave corticosteroids are being explored as they may have more favourable side-effect profiles.
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Stopping exposure to the cause of toxic myopathy
Toxic myopathy is muscle damage caused by medications, recreational drugs, and other toxins. The condition can be diagnosed in patients without pre-existing muscle disease when there is a temporal relationship between symptoms and exposure to the myotoxic substance. Muscle tissue is highly sensitive to toxins due to its high metabolic activity.
To stop exposure to the cause of toxic myopathy, it is important to identify and avoid potential toxins and myotoxic agents. These can include commonly prescribed medications, such as cholesterol-lowering drugs, statins, immunophilins (cyclosporine and tacrolimus), antihypertensive agents (such as labetalol and propofol), and other drugs. Illicit drugs and controlled narcotics, such as heroin, meperidine, cocaine, pentazocine, and amphetamines, may also be myotoxic. Additionally, alcohol abuse can lead to several forms of toxic myopathy, including acute necrotizing myopathy, acute hypokalemic myopathy, chronic alcoholic myopathy, asymptomatic alcoholic myopathy, and alcoholic cardiomyopathy. Therefore, it is crucial to avoid excessive alcohol consumption.
It is also important to be aware of toxins that may be present in the environment. For example, the inhalation of volatile agents, such as toluene, can cause generalized weakness. By identifying and avoiding these potential toxins, individuals can reduce their risk of developing toxic myopathy.
Furthermore, it is crucial to seek medical advice and undergo a comprehensive medical evaluation if toxic myopathy is suspected. A medical professional can help identify any underlying causes, review medication history, and advise on any necessary changes to medication or lifestyle. They may also recommend diagnostic tests, such as a muscle biopsy, to confirm the presence of toxic myopathy and guide treatment decisions.
Prompt recognition and discontinuation of the offending agents are vital to improving symptoms, reducing further muscle damage, and enhancing overall quality of life. With early detection and proper management, most cases of toxic myopathy can be resolved, and muscle cells have the capacity to regenerate.
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Physical therapy and supportive devices
Physical therapy and exercise are important parts of standard myopathy treatment plans. Physical exercise has been shown to reduce inflammation, reduce fatigue, increase stamina, and build muscle, even in patients with myositis. The goal of treatment is to decrease inflammation and the body's autoimmune response. Exercise is currently the only treatment recommendation for patients with inclusion body myositis.
The type of exercise undertaken is important. Moderate to intensive resistance and aerobic exercise is well tolerated and increases function in adult, chronic, low-activity myositis. Intensive muscular training can improve strength, balance, performance in activities of daily living, and walking speed. Relaxation and respiratory training can help patients use diaphragmatic breathing in various positions to help strengthen the diaphragm muscle and learn to use movement more efficiently during exercise and transfers from bed to chair, chair to toilet, etc. Gait training can help patients learn to use assistive devices and demonstrate proper movement. A physical therapist should be able to help minimize abnormalities in gait to a point where a patient is able to walk as independently as possible.
Supportive devices such as braces can be used to treat myopathy. Some of the most common durable medical equipment for use in the home includes the tub transfer bench, grab bars for the bath and shower, and raised toilet seats.
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Strength therapies, supportive care, symptomatic therapies, and psychological support
Myopathy is a general term for diseases that affect the muscles that connect to bones (skeletal muscles). While there is no cure for genetic myopathy, there are many treatment options to manage the symptoms. Treatment options vary depending on whether the myopathy is genetic or acquired and whether it is inflammatory or non-inflammatory.
Strength therapies
Strength therapies aim to improve muscle strength and include various immunotherapies, such as high-dose daily corticosteroids, which have been shown to improve strength and pulmonary and cardiac function in patients with Duchenne muscular dystrophy. Enzyme replacement therapy is another strength therapy that is life-saving in infantile Pompe disease and improves pulmonary function in late-onset disease. However, it is important to manage the side effects that may accompany most pharmacologic interventions as they can counteract the strength benefits. Creatine monohydrate is an over-the-counter supplement that has been found to slightly increase strength and function in some neuromuscular disorders.
Resistive exercise programs, such as weightlifting, can also help build muscle and improve strength through repetitive contractions against a resistive force. However, it is important to first consult with a doctor or physical therapist with experience in muscle disease and strength testing to determine if this type of exercise is suitable for the patient's condition and baseline activity level. Aquatic therapy is another option for efficient exercise, as it allows many muscles to be worked at the same time, although patients with reduced forced vital capacity (FVC) may experience dyspnea.
Supportive care
Supportive care involves managing the secondary effects of skeletal muscle weakness and comorbidities associated with specific diseases. This can include the use of supportive devices such as braces. For example, patients with dermatomyositis rashes should protect their skin from sunlight, which can worsen the rash, by wearing full-cover clothing, hats, and sunscreen. If swallowing is difficult, eating soft or semi-solid foods or pureeing food can help. Maintaining a healthy weight is also important.
Symptomatic therapies
Symptomatic therapies focus on treating the underlying cause of the condition. For example, toxin-related myopathies are treated by stopping the offending agent or medication, and muscle symptoms resulting from infections can be improved by treating the infection with antibiotics. Medications such as corticosteroids or other immunosuppressants can help manage symptoms by reducing the body's immune response and decreasing inflammation.
Psychological support
Psychological support is crucial in managing myopathies as the disease severity, illness perception, and mood are all linked to the reported quality of life of people with muscle disease. Providing psychological support should include an assessment of the social and practical limitations caused by the patient's muscle disease and its impact on their quality of life. Treatment with pharmacologic agents for depression and anxiety disorders and referral to a mental health professional can have a profound impact on the patient's quality of life.
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Frequently asked questions
Myopathy is a disease that causes muscle weakness. It is a general term for any disease that affects the muscles that control voluntary movement in the body.
Treatment depends on the type and severity of the disease. There is no cure for genetic myopathy, but there are treatment options available to manage the symptoms. For acquired myopathies, treating the underlying cause may reduce the symptoms. For example, rebalancing electrolyte levels in the body may help with muscle fatigue and cramps.
The symptoms of myopathy include muscle weakness, stiffness, and cramps. It can become difficult to do routine tasks such as getting dressed, climbing stairs, or brushing your hair and teeth. Myopathies can also affect muscles in the hands, feet, or facial and eye muscles.
Myopathies can be broadly categorized as either inherited or acquired. Inherited myopathies are caused by a genetic mutation and are present from birth. Acquired myopathies are developed later in life and can be caused by autoimmune disease, metabolic disorders, or other causes.
