Logan Steele
Muscle diseases, also known as neuromuscular disorders, refer to a group of conditions that affect the nerves controlling voluntary muscles and those that communicate sensory information to the brain. These diseases can be caused by genetic factors, autoimmune diseases, injuries, nutritional deficiencies, metabolic disturbances, toxic exposures, or inflammation. Peripheral neuropathy is the most common type of neuromuscular disorder, affecting over 20 million people in the US. Symptoms of muscle diseases vary but may include muscle weakness, pain, numbness, and tingling sensations. Some specific examples of muscle diseases include muscular dystrophy, ALS, Charcot-Marie-Tooth disease, and Guillain-Barré syndrome. Treatment options include medication, physical therapy, occupational therapy, and surgery, with ongoing research focused on genetic therapies and new medications.
| Characteristics | Values |
|---|---|
| Neuromuscular Disorders | Peripheral neuropathy, ALS, muscular dystrophy, radiculopathy |
| Muscular Dystrophy Types | Duchenne, Becker, Myotonic, Facioscapulohumeral, Congenital, Distal, Emery-Dreifuss |
| Symptoms | Muscle weakness, difficulty breathing, pain, numbness, tingling, difficulty walking, swallowing, speaking, cardiac issues, enlarged calf muscles, delayed growth, learning difficulties |
| Causes | Genetic, autoimmune, inflammatory, toxic exposures, inherited |
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What You'll Learn
Muscular dystrophy symptoms
Muscular dystrophy refers to a group of over
Duchenne Muscular Dystrophy
The most common type of muscular dystrophy, Duchenne, usually affects young boys. The symptoms of Duchenne muscular dystrophy start in early childhood. These symptoms can include challenges with movement, such as late walking, frequent falls, trouble rising from the floor or a lying or seated position, trouble running, jumping or climbing stairs, waddling gait, and walking on the toes or the balls of the feet. Other symptoms include large calf muscles, muscle pain and stiffness, learning or behaviour-related challenges, and delayed growth.
Becker Muscular Dystrophy
Becker muscular dystrophy (BMD) is the second most common type of muscular dystrophy. It mainly affects boys, but girls can have milder symptoms. Symptoms of BMD can appear any time between the ages of 5 and 60, but they typically start by the teenage years. The symptoms of Becker muscular dystrophy are similar to those of Duchenne, but they tend to be milder and progress more slowly.
Myotonic Muscular Dystrophy
Myotonic dystrophy is the most common type of muscular dystrophy diagnosed in adulthood, affecting men and women equally. With this type of muscular dystrophy, the muscles cannot relax at will. For example, it might be hard to let go of someone's hand after shaking it. Facial and neck muscles are often the first to be affected. Symptoms often start between the ages of 20 and 30, but some have symptoms shortly after birth to childhood. As the disease worsens, the heart might beat out of rhythm and the heart muscle can grow weaker. Heart rhythm issues can be the first complication for some people. Muscles involved in breathing can also become weaker, leading to poor breathing, especially during sleep.
Facioscapulohumeral Muscular Dystrophy (FSHD)
FSHD most commonly affects muscles in the face, shoulders, and upper arms. Symptoms tend to appear before age 20.
Limb-girdle Muscular Dystrophy (LGMD)
LGMD affects the muscles in the upper arms, upper legs, shoulders, and hips. It affects people of all ages. Some people with limb-girdle dystrophy develop minor disabilities over time, while others develop serious trouble using their arms or legs to do everyday activities, such as walking or carrying things.
Congenital Muscular Dystrophy
Congenital muscular dystrophies (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. CMD causes overall muscle weakness with possible joint stiffness or looseness.
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Neuromuscular disorder symptoms
Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. When nerve cells (neurons) that send and receive electrical messages to and from the body become unhealthy or die, communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy.
The symptoms of neuromuscular disorders vary depending on the specific type, its cause, the affected body part, and how progressive it is. However, muscle-related symptoms are common and may include muscle weakness, pain, twitching, uncontrolled movements, cramps, and problems moving easily or in a coordinated manner. Muscle rigidity and muscle wasting are also possible symptoms. Some neuromuscular disorders can cause issues with blood pressure, heart rate, digestion, urination, and weight loss when neuropathy affects the autonomic nervous system.
Some of the most well-known but rare neuromuscular diseases include amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease, and muscular dystrophy. Muscular dystrophy can lead to trouble walking, running, jumping, climbing stairs, and using arms. Myotonic muscular dystrophy causes muscles to be unable to relax at will, and the facial and neck muscles are often affected first. As the disease progresses, the heart muscle can weaken, and muscles involved in breathing can weaken, leading to poor breathing, especially during sleep.
Other neuromuscular disorders include inflammatory myopathies such as dermatomyositis, polymyositis, and inclusion body myositis, which cause inflammation of muscle tissue, resulting in weakness and other symptoms. Mitochondrial myopathies are inherited muscle disorders that cause muscle cramping and tissue breakdown. Myasthenia gravis, the most common neuromuscular junction disorder, is a rare autoimmune disease where the immune system interferes with the transmission of nerve impulses to the muscles, especially the eyes, mouth, throat, arms, and legs.
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Radiculopathy symptoms
Radiculopathy is a condition that occurs when a nerve root in the spinal column is pinched or damaged. It can cause a range of symptoms, including pain, weakness, numbness, and tingling. The specific symptoms of radiculopathy depend on the location of the pinched nerve along the spine. There are three types of radiculopathy, classified based on the affected area:
Cervical Radiculopathy
This type of radiculopathy occurs in the neck or cervical spine. The nerve roots in this area control sensations and movements in the arms and hands, so symptoms often manifest in these areas. Patients may experience localized neck pain in addition to pain, numbness, and tingling in the arms.
Thoracic Radiculopathy
Thoracic radiculopathy is the least common type, affecting the middle to upper back or thoracic area of the spine. It can cause sharp pain in the back, arms, legs, or shoulders, which may be exacerbated by certain activities such as coughing or sneezing. Patients may also experience numbness, a "pins and needles" sensation, or other abnormal sensations (paresthesia) in the arms or legs.
Lumbar Radiculopathy
Lumbar radiculopathy occurs in the lower back and is the most common type of radiculopathy. It is sometimes referred to as sciatica because it often involves the nerve roots that make up the sciatic nerve. Patients may experience pain radiating down the leg, as well as localized low back pain.
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Myopathy symptoms
Myopathies are a class of diseases that directly affect skeletal muscles, which are the muscles connected to your skeleton. Myopathies can be inherited or acquired. Inherited myopathies are caused by mutated genes inherited from one's parents, whereas acquired myopathies develop later in life due to various external factors or underlying health conditions.
Myopathies are characterised by muscle weakness, most commonly in the upper arms, shoulders, and thighs. This muscle weakness can make it difficult to perform routine tasks such as getting dressed, bathing, brushing teeth or hair, climbing stairs, or getting out of bed. Some myopathies, such as muscular dystrophies, follow a different pattern with muscle weakness often beginning in the face, hips, and shoulders.
There are several types of myopathies, including congenital myopathies, mitochondrial myopathies, muscular dystrophies, metabolic myopathies, autoimmune myopathies, and endocrine myopathies. Congenital myopathies are often associated with developmental delays in crawling or walking and can affect all skeletal muscles. Mitochondrial myopathies are caused by mutations in the mitochondria, which are the energy-producing parts of the body's cells. In addition to muscle weakness, they may cause problems with the heart, brain, or gastrointestinal tract. Muscular dystrophies are characterised by progressive weakness in skeletal muscles due to the degeneration of muscular tissue. Metabolic myopathies cause random episodes of muscle weakness, often triggered by activities like exercise or prolonged muscle use. Autoimmune myopathies are triggered by autoimmune conditions, where the body's immune system attacks its own muscle fibres. Endocrine myopathies are treated by stabilising hormone levels.
Myopathies may have serious complications such as sepsis, respiratory failure, kidney failure, or cardiomyopathies (diseased heart muscle). Currently, there is no cure for most inherited myopathies, and treatment involves managing symptoms with physical therapy and medications. Acquired myopathies are typically treated by addressing the underlying cause.
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Myasthenia gravis symptoms
Muscle diseases, or neuromuscular disorders, affect the nerves that control voluntary muscles and those that communicate sensory information to the brain. Some well-known muscle diseases include ALS and muscular dystrophy. Symptoms of muscle diseases vary but may include muscle weakness, pain, numbness, and tingling.
Myasthenia gravis is a chronic neuromuscular disease that causes muscle weakness, which improves and deteriorates at different times. The condition usually affects the eyes and face first, but it often spreads to other parts of the body over time. The weakness tends to be more severe when the person is tired and improves after rest. In some cases, the symptoms can also be triggered by stress, infections, or certain medications.
The specific symptoms of myasthenia gravis include weakness in the muscles of the eyes, eyelids, and face, as well as the neck, arms, and legs. If the muscles in the mouth, throat, and chest are affected, it can lead to severe breathing difficulties, known as a "myasthenic crisis," which requires immediate emergency medical attention. The weakness caused by myasthenia gravis can also result in difficulty with physical tasks such as lifting, climbing stairs, brushing teeth, or washing hair.
Myasthenia gravis is an autoimmune disease, which means the body's defense system mistakenly attacks healthy cells or proteins needed for normal functioning. It is caused by an error in how nerve signals are sent to the muscles, specifically an interruption in communication between the nerve and muscle at the neuromuscular junction. There is currently no cure for myasthenia gravis, but treatments are available to help reduce and improve muscle weakness. These include medications such as anticholinesterase drugs (e.g., mestinon or pyridostigmine), thymectomy (surgical removal of the thymus gland), and complement inhibition using medications like eculizumab.
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Frequently asked questions
Muscular dystrophy is a group of more than 30 genetic conditions that cause muscle weakness and other symptoms. These symptoms include:
- Waddling gait
- Walking on the toes or balls of the feet
- Large calf muscles
- Muscle pain and stiffness
- Learning or behaviour-related challenges
- Delayed growth
- Progressive muscle weakness and wasting
- Enlarged calf, buttock, shoulder and arm muscles
- Respiratory problems
- Heart rhythm issues
- Trouble walking, running, jumping, climbing stairs, swallowing, chewing and speaking
Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information to the brain. Symptoms include:
- Pain
- Numbness
- Tingling
- Muscle weakness
- Paresthesia (abnormal sensations)
Myopathies are conditions that directly affect skeletal muscles. They attack muscle fibres, making muscles weak. Symptoms include:
- Difficulty breathing due to diaphragm muscle weakness
- Issues with muscle movement
