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The condition of the surrounding muscles can cause a wide range of issues, from simple movement difficulties to severe pain and stiffness. For example, muscular dystrophy (MD) is a condition that affects muscles over time, causing muscle fibres to leak the protein creatine kinase and take on excess calcium, leading to progressive muscle degeneration. MD can be caused by defects in the dystrophin-glycoprotein complex, connective tissue, or expression of toxic gene products in muscle fibres. Similarly, myopathies are diseases that attack muscle fibres, making muscles weak and causing difficulties with movement and breathing. Myopathies can be inherited or acquired, with the latter developing later in life due to medical disorders, infections, medications, or electrolyte imbalances. Polymyositis is another condition that causes muscles to become irritated, inflamed, and weak, affecting even simple movements. While the exact cause of polymyositis is unknown, it is believed to be linked to a virus, an autoimmune reaction, or an allergic response to medication.
| Characteristics | Values |
|---|---|
| Muscular Dystrophy | Emery-Dreifuss, Limb-girdle, Myotonic, Duchenne, Becker, Congenital, Distal |
| Duchenne Muscular Dystrophy | Higher rates of autism spectrum disorder, ADHD, OCD, and anxiety |
| Neuromuscular Disorders | Dysfunction of peripheral nerves, muscles, or communication between them |
| Neuromuscular Junction Disorders | Issues with communication between motor nerves and muscles |
| Myopathies | Conditions that directly affect skeletal muscles |
| Polymyositis | Muscles become irritated, inflamed, weak, and break down |
| Muscle Atrophy | Wasting or thinning of muscle mass |
| Types of Muscle Atrophy | Disuse (physiologic) atrophy, neurogenic atrophy |
| Causes of Muscle Atrophy | Malnutrition, age, genetics, lack of physical activity, certain medical conditions |
| Muscle Disorders | Weakness, pain, paralysis |
| Types of Muscle Disorders | Rippling muscle disease, tubular aggregate myopathy, rhabdomyolysis |
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Neuromuscular disorders
The neuromuscular system involves the interplay between nerve cells (neurons) and muscles. Neurons transmit electrical signals to and from the body, enabling control over voluntary muscles and facilitating the transmission of sensory information to the brain. When these neurons become unhealthy or die, the communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy.
There are numerous types of neuromuscular disorders, including muscular dystrophy, myasthenia gravis, and various motor neuron diseases. Muscular dystrophy is a group of inherited diseases characterized by muscle weakness and the wasting away of muscle tissue. It can manifest in different forms, such as Becker muscular dystrophy, congenital muscular dystrophy, and Duchenne muscular dystrophy, each affecting different muscles with varying ages of onset and rates of progression. Myasthenia gravis, an autoimmune disease, involves the production of antibodies that interfere with the transmission of nerve impulses to the muscle. Motor neuron diseases, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), are characterized by the gradual death of motor neurons, leading to progressive loss of muscle function.
The symptoms of neuromuscular disorders vary in severity and can include muscle weakness, atrophy, spasms, twitching, pain, and sensory disturbances like numbness and tingling. Some disorders exhibit symptoms from infancy, while others may manifest in childhood or adulthood. Treatment options include medications, physical therapy, occupational therapy, and surgery, aimed at managing symptoms, delaying disease progression, and improving patients' quality of life.
While there is currently no cure for most neuromuscular disorders, research efforts are underway to explore genetic therapies and new medications that may lead to a cure. These disorders can have a significant impact on an individual's mobility, functionality, and overall quality of life, necessitating comprehensive care and management.
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Muscular dystrophy
There are many types of muscular dystrophy with varying ages of onset, severity, and patterns of affected muscles. Some common types include Duchenne muscular dystrophy, Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, Myotonic dystrophy, Congenital muscular dystrophies, Facioscapulohumeral muscular dystrophy, and Limb-girdle muscular dystrophy. The symptoms of MD worsen over time, and many people with MD eventually lose the ability to walk and require mobility equipment. MD can also affect other organs, such as the heart, lungs, gastrointestinal system, endocrine glands, spine, eyes, brain, and others.
While there is currently no cure for MD, treatment can help manage symptoms and prevent complications. Treatment typically includes a combination of therapies such as physical therapy, occupational therapy, respiratory care, speech therapy, assistive devices, medicines, and in some cases, surgery.
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Muscle atrophy
Neurogenic atrophy, on the other hand, is caused by nerve problems or diseases. When these nerves are damaged, they cannot trigger the muscle contractions necessary for muscle activity. This type of atrophy can be caused by conditions such as amyotrophic lateral sclerosis (ALS), Guillain-Barre syndrome, carpal tunnel syndrome, spinal cord injury, or multiple sclerosis.
Sarcopenia is a specific type of muscle atrophy that is age-related and caused by the natural ageing process. It is characterised by a progressive loss of muscle mass and strength and can greatly impact an individual's quality of life by reducing their ability to perform daily tasks. The risk of sarcopenia increases with age, with rates ranging from 5% to 13% in people aged 60 and older, and 11% to 50% in people aged 80 and older. It is believed that the decrease in muscle fibres causes the muscles to thin. As people age, their bodies produce fewer proteins that promote muscle growth, leading to shrinking muscle cells.
Muscular dystrophy is another condition that can cause muscle atrophy. It is a group of diseases that cause muscles to weaken and lose mass over time due to changes in the genes responsible for forming healthy muscles. There are various types of muscular dystrophy, including Emery-Dreifuss, myotonic, facioscapulohumeral (FSHD), and congenital. Symptoms can include joint stiffness, muscle weakness, and wasting, and they can begin in childhood or adulthood.
Overall, muscle atrophy can significantly impact an individual's mobility and quality of life, and it is important to seek medical advice and treatment, such as physical therapy or surgery, to manage the condition and slow its progression.
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Polymyositis
The symptoms of polymyositis include muscle weakness and pain, particularly in muscle groups closer to the center of the body, such as hips, shoulders, thighs, upper arms, upper back, and neck. It can cause difficulty in performing everyday activities such as climbing stairs, getting out of a chair, or carrying objects. The condition typically develops gradually, but it can also come on suddenly in rare cases.
There is currently no cure for polymyositis, but treatments can help manage the symptoms and reduce their impact on daily life. The first line of treatment is corticosteroids, which reduce inflammation and pain. Immunosuppressants are also used to prevent the immune system from attacking the body's own tissues. Other therapies include physical therapy and a diet rich in proteins.
Healthcare providers diagnose polymyositis through a physical exam and various tests. Blood tests can detect muscle enzymes or antibodies that indicate muscle damage. MRI scans check for muscle inflammation, while EMG tests look for unusual muscle activity. A muscle biopsy can also be performed to examine muscle tissue health.
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Myopathies
Inherited myopathies
Also known as congenital myopathies, these are caused by mutated genes inherited from one of the parents. They are present from birth and may cause developmental delays in learning motor skills like crawling or walking. Some inherited myopathies include:
- Limb girdle muscular dystrophies
- Facioscapulohumeral muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Proximal myotonic myopathy
- Glycogen storage diseases such as McArdle disease
Acquired myopathies
These myopathies develop later in life and can be due to various external factors or underlying health conditions. Some examples include:
- Autoimmune/inflammatory myopathies: caused by an autoimmune condition where the body attacks itself, leading to problems with muscle function.
- Toxic myopathy: caused by toxins such as alcohol or medications like checkpoint inhibitor immunotherapy, corticosteroids, or statins.
- Endocrine myopathies: occur when hormones interfere with muscle function, such as in thyroid or adrenal diseases.
- Infectious myopathies: caused by viral, bacterial, parasitic, or fungal infections.
- Critical illness myopathy: develops in individuals in intensive care units, affecting the muscles used for breathing.
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Frequently asked questions
Muscle strains, or pulled muscles, are the most common muscle injury. They occur when a muscle is overused and the muscle fibres tear apart.
Several conditions can cause muscle pain and weakness, including fibromyalgia, myopathies, myositis, polymyositis, and neuromuscular disorders.
Muscular dystrophy can cause muscle pain and stiffness, as well as difficulty with movement, such as frequent falls, trouble rising from a seated position, and waddling gait. It can also affect the heart, leading to cardiac issues.
No, there is currently no cure for polymyositis. However, its symptoms can be managed through treatments such as anti-inflammatory medicines and immunosuppressive medicines.
Myopathy can be inherited or acquired. Inherited myopathies are often due to an abnormal gene mutation, while acquired myopathies can develop due to medical disorders, infections, medications, or electrolyte imbalances.
