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Muscle diseases can be caused by a variety of factors, including genetic, autoimmune, inflammatory, toxic exposures, and inherited causes. Myopathies, for instance, are conditions that directly affect skeletal muscles, causing weakness by attacking muscle fibres. These can be inherited or acquired later in life due to other medical disorders, infections, medications, or electrolyte imbalances. Neuromuscular disorders, on the other hand, involve problems with how nerves and muscles work together, resulting in weakness, pain, or paralysis. Muscular dystrophy, a common inherited myopathy, is caused by gene mutations that affect the production of proteins protecting muscle fibres. Additionally, metabolic myopathies are caused by issues with genes responsible for enzymes necessary for muscle function, while toxic myopathies result from toxins or medications interfering with muscle structure and function.
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What You'll Learn
Genetic or inherited causes
Muscle diseases can be caused by a variety of genetic or inherited factors. Muscular dystrophy, for example, is a group of more than 30 genetic conditions that cause muscle weakness and other related symptoms. It occurs when certain genes involved in making proteins that protect muscle fibres undergo irregular changes, resulting in gene mutations. These mutations can be inherited from one or both biological parents, with the risk being higher for those with a family history of the disease. Duchenne muscular dystrophy, the most common type, usually affects young boys, while Becker muscular dystrophy tends to be milder and slower progressing.
Myopathies are another group of conditions that directly affect skeletal muscles, causing muscle weakness by attacking muscle fibres. Some myopathies are genetic or inherited, such as metabolic myopathies, which are caused by issues with genes that instruct the production of enzymes needed by muscles. Mitochondrial myopathies, on the other hand, occur due to defects in muscle mitochondria, the energy-producing parts of cells.
Congenital muscular dystrophy can also be inherited and may affect an individual's ability to sit or stand without support, with some never learning to walk. It can cause respiratory issues due to diaphragm muscle weakness and impact the central nervous system, leading to vision and speech problems, seizures, and structural changes in the brain.
Additionally, Charcot-Marie-Tooth disease is a genetic or inherited cause of peripheral neuropathy, a broad category of nerve diseases affecting the peripheral nerves. Peripheral neuropathy can lead to muscle weakness and movement impairment due to the crucial role of peripheral nerves in muscle function.
In summary, muscle diseases can have various genetic or inherited causes, including muscular dystrophy, myopathies, congenital muscular dystrophy, and peripheral neuropathy caused by conditions like Charcot-Marie-Tooth disease. These genetic factors result in muscle weakness, movement difficulties, respiratory issues, and other symptoms that vary in severity and progression.
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Autoimmune or inflammatory causes
Muscle diseases can be caused by autoimmune responses or inflammatory causes. Autoimmune diseases occur when the body's immune system attacks the body by mistake, instead of protecting it. This can cause a wide range of symptoms, including muscle weakness, joint pain, swelling, stiffness, and more.
There are more than 100 types of autoimmune diseases, and they are very common, with around 1 in 15 people in the US estimated to have one. Autoimmune diseases can affect the whole body, from head to toe, and symptoms can come and go. Some examples of autoimmune diseases that affect the muscles include chronic inflammatory demyelinating polyneuropathy (CIDP), Guillain-Barré syndrome, and Lambert-Eaton myasthenic syndrome (LEMS).
Myositis is another autoimmune disease that affects the muscles. It causes chronic inflammation, which leads to muscle weakness and pain. There are a few different forms of myositis, including polymyositis, dermatomyositis, and inclusion body myositis. Polymyositis is a rare autoimmune disease that affects multiple muscles simultaneously, usually causing symptoms in the muscles near the center of the body. It can cause severe, life-threatening complications. Dermatomyositis affects the skin in addition to the muscles, and inclusion body myositis is a rare form that primarily affects older adults.
Peripheral neuropathy is the most common type of neuromuscular disorder. It is an umbrella term for nerve diseases that affect the nerves outside of the brain and spinal cord. It can be caused by autoimmune responses or inflammation.
Metabolic myopathies are caused by issues with the genes that give instructions for enzymes that muscles need. Mitochondrial myopathies occur when there is a defect in muscle mitochondria, which are the energy-producing parts of cells. Toxic myopathies happen when toxins or medications interfere with muscle structure or function.
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Toxic exposures
Alcohol is also a common cause of toxic myopathy. Alcoholics may develop proximal limb-girdle weakness, especially in the lower limbs, due to chronic alcoholic myopathy. Alcohol metabolism may lead to the accumulation of toxic metabolites or free radicals, which can damage lipid membranes. CK levels and muscle symptoms may resolve over several weeks but may recur with repeated exposure to alcohol.
Medications can also cause toxic myopathy. These include checkpoint inhibitor immunotherapy (such as pembrolizumab and nivolumab), corticosteroids (e.g. prednisone), cholesterol-lowering drugs (statins), and antivirals. The risk of myopathy appears to increase with concomitant use of certain medications, such as the combination of gemfibrozil and statins. Patients may present with myalgias, CK elevations, or weakness that may start a few weeks or years after starting the medications.
It is important to recognise toxic myopathies early, as they may be reversible upon removal of the offending toxin or medication.
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Neuromuscular disorders
Muscle disorders can cause weakness, pain, or even paralysis. Neuromuscular disorders are a group of conditions that affect the nerves that control voluntary muscles and the nerves that communicate sensory information to the brain. When neurons become unhealthy or die, communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy.
There are many types of neuromuscular disorders, and they can be inherited or caused by a spontaneous gene mutation. Some neuromuscular disorders are autoimmune diseases, while others are caused by toxic exposures to chemicals or medications. Peripheral neuropathy is the most common type of neuromuscular disorder, affecting the peripheral nerves outside of the brain and spinal cord. This can cause pain, numbness, tingling, and weakness in the affected limbs.
Myopathies are conditions that directly affect skeletal muscles, attacking muscle fibres and causing weakness. Metabolic myopathies are caused by issues with the genes that give instructions for enzymes needed by muscles. Mitochondrial myopathies occur when there is a defect in muscle mitochondria, the energy-producing part of cells. Toxic myopathies happen when toxins or medications interfere with muscle structure or function.
Muscular dystrophy is a type of neuromuscular disorder caused by a gene change that affects the production of proteins that protect muscle fibres. This can lead to serious health issues such as trouble walking and using arms. Duchenne muscular dystrophy is the most common type, usually affecting young boys. Other types include Emery-Dreifuss muscular dystrophy, which causes joint stiffness, and myotonic dystrophy, which affects the ability to relax muscles at will.
Treatment for neuromuscular disorders includes medications, physical therapy, occupational therapy, and surgery to manage symptoms, delay disease progression, and improve quality of life. While there is currently no cure, research is being conducted on genetic therapies and new medications.
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Muscular dystrophy
Muscle disorders can be caused by a variety of factors, including genetic, autoimmune, inflammatory, and toxic causes. While the causes vary, these disorders typically result in muscle weakness, pain, or paralysis.
There are nine major types of muscular dystrophy, each affecting different muscles and presenting varying ages of onset and rates of progression. The most common type is Duchenne muscular dystrophy, which primarily affects young boys. Symptoms of Duchenne muscular dystrophy include delayed milestones such as late walking, frequent falls, and trouble with motor skills like running, jumping, or climbing stairs. Other symptoms may include muscle pain and stiffness, learning or behavioural challenges, and delayed growth.
Another type is Emery-Dreifuss muscular dystrophy, which causes stiffness in certain joints and wasting of muscles in the shoulders, upper arms, and calves. Myotonic dystrophy, also known as Steinert's disease or dystrophia myotonica, affects the ability of muscles to relax at will, often impacting the facial and neck muscles first. Facioscapulohumeral muscular dystrophy (FSHD) causes muscle weakness, typically starting in the face, shoulders, and upper arms, and sometimes resulting in mild hearing loss.
The symptoms of muscular dystrophy can lead to serious complications, including heart rhythm issues and respiratory difficulties due to weakened breathing muscles. Over time, individuals with muscular dystrophy may experience increasing disability and deformities in the joints, eventually requiring the use of a wheelchair for mobility.
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Frequently asked questions
There are several types of muscle diseases, including myopathies, myositis, dermatomyositis, muscular dystrophy, and sarcopenia. Myopathies are conditions that directly affect skeletal muscles, attacking muscle fibres and making muscles weak. Myositis is an inflammation of muscles and their associated tissues, including blood vessels. Dermatomyositis is a rare inflammatory muscle disease that can affect people of any age or sex. Muscular dystrophy is a group of inherited myopathies that cause muscle loss and weakness. Sarcopenia, also called geriatric muscle disease, is common in older adults and causes loss of muscle mass and strength.
Muscle diseases can be caused by genetic or inherited factors, autoimmune or inflammatory issues, toxic exposures, and in some cases, the cause is unknown. Myopathies can be inherited or acquired later in life due to other medical disorders, infections, medications, or electrolyte imbalances. Muscular dystrophy is caused by an irregular change in certain genes involved in making proteins that protect muscle fibres.
The symptoms of muscle diseases can vary depending on the specific disease but often include muscle weakness, pain, stiffness, and paralysis. In the case of myositis, additional symptoms may include a chronic dry cough and difficulty swallowing. For muscular dystrophy, symptoms can include challenges with movement, such as late walking, frequent falls, and trouble running or jumping. Sarcopenia can cause a sudden or gradual loss of muscle strength over time.
