Logan Steele
Muscle disorders are diseases and disorders that affect the human muscle system. They can cause muscle weakness, pain, or even paralysis. Some muscle disorders are caused by injury or overuse, such as sprains or strains, while others may be caused by genetic disorders, certain cancers, inflammation, nerve diseases, infections, or medications. Some well-known muscle disorders include ALS, muscular dystrophy, and neuromuscular disorders, which affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. While there is currently no cure for muscular disorders, treatments such as corticosteroids, immunosuppressants, and physical therapy can help manage the condition.
| Characteristics | Values |
|---|---|
| Types | Neuromuscular disorders, muscular dystrophy, myopathies, toxic myopathies, mitochondrial myopathies, periodic paralysis, peripheral neuropathy, metabolic myopathies, myositis, and myasthenia gravis |
| Causes | Genetic disorder, injury or overuse, certain cancers, inflammation, nerve diseases, infections, medications, toxin exposure, nutritional or metabolic disturbances, autoimmune diseases, or unknown |
| Symptoms | Muscle weakness, pain, atrophy, twitching, cramps, spasms, difficulty walking, issues with coordination and balance, drooping eyelids or other facial weakness, difficulty speaking, swallowing, or breathing |
| Diagnosis | Medical and family history, neurological exam, electromyography, nerve conduction test |
| Treatment | Corticosteroids, immunosuppressants, physical therapy, occupational therapy, surgery |
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What You'll Learn
Muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. It mainly affects boys, but girls can also have a milder version. As DMD progresses, it affects the heart and lungs. Becker muscular dystrophy (BMD) is the second most common type and mainly affects boys, but girls can have milder symptoms. Symptoms of BMD typically appear between the ages of 5 and 60 but usually start in the teenage years.
Myotonic dystrophy is the most common type of muscular dystrophy diagnosed in adulthood and affects men and women equally. People with myotonic dystrophy have difficulty relaxing their muscles after using them. The condition can also affect the heart and lungs and cause endocrine issues such as thyroid disease and diabetes. Congenital muscular dystrophies (CMD) refers to a group of muscular dystrophies that are present at or near birth. CMD causes overall muscle weakness with possible joint stiffness or looseness and may also involve spinal curvature, breathing issues, intellectual disabilities, learning disabilities, eye issues or seizures.
Facioscapulohumeral muscular dystrophy (FSHD) most commonly affects muscles in the face, shoulders and upper arms. Limb-girdle muscular dystrophy (LGMD) affects the muscles in the upper arms, upper legs, shoulders and hips. It affects people of all ages. Oculopharyngeal muscular dystrophy (OPMD) weakens the muscles in the eyelids and throat, causing droopy eyelids and difficulty swallowing.
There is currently no cure for muscular dystrophy, but medications and therapy can help manage symptoms and slow the course of the disease. The Muscular Dystrophy Association (MDA) is a qualified tax-exempt organisation that empowers people with muscular dystrophy to live longer, more independent lives through research, care, support and advocacy.
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Neuromuscular disorders
Muscle disorders can cause weakness, pain or even paralysis. Neuromuscular disorders are a type of muscle disorder that affects the nerves that control voluntary muscles and the nerves that communicate sensory information to the brain. When nerve cells (neurons) become unhealthy or die, communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy.
There are hundreds of types of neuromuscular disorders, with the most common symptom being muscle weakness. Other symptoms include muscle spasms, twitching, and pain. Peripheral neuropathy is the most common type of neuromuscular disorder, with researchers estimating that over 20 million people in the US have some form of it. However, it has its own group and is therefore not always classified as a neuromuscular disorder. Some of the more well-known neuromuscular disorders include ALS and muscular dystrophy.
Some specific examples of neuromuscular disorders include:
- Lambert-Eaton myasthenic syndrome (LEMS)
- Myasthenia gravis
- Myopathies (conditions that directly affect skeletal muscles)
- Muscular dystrophy (a group of more than 30 genetic conditions affecting muscle function)
- Troyer Syndrome
- Ataxia with vitamin E deficiency
- Congenital myasthenic syndrome
- Distal hereditary motor neuropathy, type II
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Metabolic myopathies
Muscle cells, like all cells, depend on metabolism to function correctly. They convert sugar and fat into adenosine triphosphate (ATP) through the work of enzymes. ATP enables muscles to contract and function normally. Metabolic myopathies occur when there are insufficient levels of a particular enzyme used in this process. Different forms of metabolic myopathies are distinguished by which enzyme is deficient or missing. For example, McArdle disease is due to a lack of an enzyme that assists in carbohydrate metabolism, while Pompe disease is caused by acid maltase deficiency.
The main symptom of most metabolic myopathies is exercise intolerance, where a person becomes tired very easily. The degree of exercise intolerance varies greatly between individuals and between different types of metabolic myopathies. Some people may experience fatigue after mild exertion, such as walking or blow-drying their hair, while others may only have trouble after jogging. Those with defects in their carbohydrate-processing pathways may get a "second wind" after 10-15 minutes of exercise. Metabolic myopathies can also cause muscle weakness, muscle pain, and swollen or tender muscles. Episodes of rhabdomyolysis, or severe muscle pain, may occur when a person with a metabolic myopathy "overdoes it." These episodes can occur during or after exercise and may be triggered by aerobic or isometric exercise. Rhabdomyolysis can also be caused by illness, cold, fasting, stress, or menstruation.
Treatment for metabolic myopathies focuses on controlling symptoms and minimizing the progression of muscle weakness through changes in physical activity, diet, and the use of vitamins or supplements. A cardiologist familiar with metabolic myopathies can screen for any damage to the heart muscle, and a high-protein or low-fat diet may be recommended depending on which enzyme is affected. In some cases, tendon transfers may help people with myopathy regain control of their hands.
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Mitochondrial myopathies
Mitochondrial encephalomyopathies, on the other hand, present with both muscular and neurological symptoms. Vision loss, caused by optic nerve shrinkage or breakdown of cells lining the back of the eye, is a common symptom. Other symptoms include migraine headaches, seizures, and hearing loss.
The symptoms of mitochondrial myopathies vary widely depending on the type and from person to person. They are caused by mutations or changes in genes, the blueprint for making proteins. While they are inheritable, they can also occur with no family history, and different family members may be affected differently.
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Muscle injuries
One category of muscle injuries is neuromuscular disorders, which affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. When nerve cells (neurons) become unhealthy or die, the communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy. Some neuromuscular disorders are inherited or caused by a spontaneous gene mutation, while others may be caused by immune system disorders. Common symptoms of neuromuscular disorders include muscle weakness, twitching, cramps, aches and pains, and difficulty walking.
There are several types of neuromuscular disorders, including metabolic myopathies, mitochondrial myopathies, periodic paralysis, toxic myopathies, and peripheral neuropathy. Metabolic myopathies are caused by issues with genes that give instructions for enzymes that muscles need, such as glycogen storage diseases and lipid storage disorders. Mitochondrial myopathies occur when there is a defect in muscle mitochondria, the energy-producing part of cells. Periodic paralysis, on the other hand, involves episodes where muscles become slack, weak and unable to contract.
While there is currently no cure for neuromuscular disorders, various treatments can help manage the symptoms and enhance patients' quality of life. These treatments include medications, physical therapy, occupational therapy, and, when necessary, surgery. Corticosteroids, for example, can be prescribed to reduce cramping and spasms, while immunosuppressants may be given to inhibit or prevent overactivity of the immune system.
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Frequently asked questions
Muscle diseases, or muscle disorders, are diseases and disorders that affect the human muscle system. They can cause weakness, pain, or even paralysis.
Some examples of muscle diseases include muscular dystrophy, myositis, and myopathies.
Symptoms of muscle diseases can include muscle weakness, muscle atrophy, muscle twitches, cramps, spasms, and pain.
While there is currently no cure for muscle diseases, a variety of treatments can help manage the condition. Treatments include corticosteroids, immunosuppressants, physical therapy, and, when necessary, surgery.
