Victor Forge
Muscle disorders are diseases and disorders that affect the human muscle system and are characterised by muscle weakness. They can be classified as primary or secondary. Primary muscle diseases are those that are a result of direct abnormalities of the muscles, such as polymyositis. Secondary muscle diseases are those that are caused by another condition, such as endocrine issues. Neuromuscular illnesses are a diverse group of conditions that affect the nerves controlling voluntary muscles, leading to weakness, paralysis, and other signs. Common examples of neuromuscular illnesses include muscular dystrophy, amyotrophic lateral sclerosis (ALS), and myasthenia gravis.
| Characteristics | Values |
|---|---|
| Common Muscle Diseases | Muscular Dystrophy, Amyotrophic Lateral Sclerosis (ALS), Myasthenia Gravis, CMT, Friedreich's Ataxia |
| Symptoms | Muscle weakness, fatigue, pain, difficulty with mobility, muscle wasting, twitching, cramps, aches, contractures, paralysis, respiratory failure, vision and hearing impairment, cardiomyopathy |
| Causes | Genetic mutations, autoimmune reactions, infections, environmental factors, immune system disorders |
| Diagnosis | Medical history evaluation, physical examination, imaging tests, muscle function tests |
| Treatment | Medications, physical therapy, occupational therapy, surgery, regular exercise, balanced diet, stress management, avoiding overexertion |
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What You'll Learn
Muscular dystrophy
There are more than 30 types of muscular dystrophy, with symptoms ranging from muscle weakness in the face, neck, shoulders, upper arms, and shins to difficulty relaxing muscles following contractions. Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. For example, Facioscapulohumeral (FSHD) muscular dystrophy most commonly affects muscles in the face, shoulders, and upper arms, while Limb-girdle muscular dystrophy (LGMD) affects the muscles in the upper arms, upper legs, shoulders, and hips. Other types include Emery-Dreifuss muscular dystrophy (EDMD), Oculopharyngeal muscular dystrophy (OPMD), and Congenital muscular dystrophies (CMD).
The symptoms of muscular dystrophy get worse over time, with some people eventually needing to use a wheelchair. While there is currently no cure, medications and therapy can help manage symptoms and slow the course of the disease. The Muscular Dystrophy Association (MDA) is a voluntary health organization in the United States that provides support and resources for people living with muscular dystrophy, ALS, and over 300 other neuromuscular conditions.
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Neuromuscular illnesses
Muscle diseases often present with symptoms such as muscle weakness, fatigue, pain, and difficulty with mobility and movement. They are often diagnosed through medical history evaluation, physical examination, imaging tests, and specialised muscle function tests. While most muscle diseases do not have a cure, early detection and treatment can improve the patient's quality of life.
Some common examples of neuromuscular illnesses include muscular dystrophy, amyotrophic lateral sclerosis (ALS), and myasthenia gravis. Muscular dystrophy causes muscle weakness and the wasting away of muscle tissue, eventually leading to the loss of strength. It is inherited from parents, and different types of muscular dystrophy affect different parts of the body. ALS, another neuromuscular disease, affects the nerve cells that control voluntary muscles, leading to progressive weakness and wasting of muscles. Myasthenia gravis is an autoimmune neuromuscular disorder where the body's immune system attacks the connection between nerves and muscles, resulting in muscle weakness and fatigue.
Other neuromuscular illnesses include Friedreich's Ataxia, which causes progressive difficulty with walking, coordination, and balance, along with muscle weakness, vision and hearing impairment, and cardiomyopathy. CMT is also a group of inherited neurological disorders that lead to muscle weakness and wasting, particularly in the feet, lower legs, hands, and forearms. CMT can cause high arches, hammertoes, and difficulty walking and is characterised by the immune system's attack on peripheral nerves.
While neuromuscular illnesses can present significant challenges, early detection and treatment by an experienced multidisciplinary team are crucial for effective management and improving patients' quality of life.
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CMT (Charcot-Marie-Tooth disease)
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves—the nerves outside of the brain and spinal cord. CMT is the most common form of inherited peripheral neuropathy, and it affects people of all races and ethnicities, regardless of sex. The disease is named after the three doctors who identified it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
CMT is caused by mutations in the genes that affect the nerves in the feet, legs, hands, and arms. These mutations can damage the nerves directly, or they can damage the protective coating (myelin sheath) that surrounds the nerve. This damage causes weaker messages to travel between the limbs and the brain, resulting in muscle weakness and wasting, particularly in the feet, lower legs, hands, and forearms. CMT can also affect the myelin coating on axons, slowing down the signals travelling through neurons.
Common symptoms of CMT include muscle weakness, foot deformities such as high arches or hammertoes, difficulty walking, and loss of sensation in the extremities. Symptoms usually begin in the feet and legs but may eventually affect the hands and arms. They typically manifest during adolescence or early adulthood and progressively worsen over time. However, they can also develop in childhood or middle age. While CMT weakens muscles and affects quality of life, it does not affect life span.
CMT is usually treated with physical therapy and assistive devices or shoes. It is not considered dangerous, and it does not reduce the lifespan of those affected.
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Friedreich's Ataxia
Muscle diseases are often inherited and can cause muscle weakness, fatigue, pain, and difficulty with mobility. Some common muscle diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), and myasthenia gravis.
One example of a rare muscle disease is Friedreich's Ataxia (FA), a genetic, progressive neuromuscular disease that affects around 5,000 people in the United States and 15,000 worldwide. FA causes issues with balance and coordination of movement, leading to a life-altering loss of mobility. Symptoms typically begin between the ages of five and 15 but can sometimes appear after age 25.
Initial symptoms of FA may include unsteady posture, frequent falling, fatigue, and progressive difficulty walking due to impaired ability to coordinate voluntary movements (ataxia). FA affects a person's peripheral nerves, which carry information between the brain and the body using sensory and motor signals. This results in motor weakness and sensory loss.
As the disease progresses, people with FA may develop slurred speech (dysarthria), vision and hearing impairment, muscle pain or stiffness, scoliosis (an irregular curvature of the spine), and cardiomyopathy, a disease of the cardiac muscle that can lead to heart failure or arrhythmias. Heart disease is the most common cause of death in people with FA.
There is currently no cure for FA, but many of the symptoms and complications can be treated or managed through medication, physical therapy, and lifestyle changes to help individuals maintain their function and daily activities for as long as possible. Doctors use tools such as the Friedreich's Ataxia Rating Scale (FARS) to measure the progression of the disease. In 2023, the first medication to treat FA, omaveloxolone, was approved for individuals aged 16 and older.
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Muscle weakness
- Neuromuscular disorders such as muscular dystrophies, multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), and myasthenia gravis.
- Chronic conditions such as Addison's disease, anemia, diabetes, and fibromyalgia.
- Sleep disorders, such as narcolepsy and insomnia, which can result in daytime muscle weakness and fatigue.
- Infectious conditions such as the flu, Lyme disease, and meningitis.
- Neurological conditions such as cervical spondylosis and Guillain-Barré syndrome.
- Prolonged use of certain drugs.
- In some cases, muscle weakness may be due to a lack of use, such as during an extended period of bed rest or hospitalisation.
If you are experiencing muscle weakness, it is important to seek medical attention, especially if it lasts more than a few days or interferes with your daily routine. A healthcare provider can help determine the underlying cause and recommend appropriate treatment options, which may include physical therapy, medication, or lifestyle changes such as regular exercise and a balanced diet.
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Frequently asked questions
There are several common muscle diseases, including muscular dystrophy, amyotrophic lateral sclerosis (ALS), and myasthenia gravis.
Muscular dystrophy is a group of inherited diseases that cause progressive muscle weakness and loss of muscle mass. It occurs when abnormal genes interfere with the production of proteins needed to form healthy muscles. The most common form, Duchenne, usually occurs in young boys.
Common symptoms of muscle diseases include muscle weakness, fatigue, pain, and difficulty with mobility. Symptoms can vary depending on the specific disease and the areas of the body affected.
