Logan Steele
Muscle disorders are diseases and disorders that affect the human muscle system, causing skeletal muscle weakness, pain, or even paralysis. They can be caused by injury or overuse, genetic disorders, certain cancers, inflammation, nerve diseases, infections, or medications. Some specific examples of muscle diseases include muscular dystrophy, myositis, and myopathy. Muscular dystrophy, for instance, causes muscle weakness and wasting, leading to difficulty with movement and activities such as walking or using arms. There are various types of muscular dystrophy, such as Duchenne, Becker, and Emery-Dreifuss, each with unique symptoms and age of onset. While there is currently no cure for muscular disorders, treatments like medications, physical therapy, and surgery can help manage symptoms and enhance patients' quality of life.
| Characteristics | Values |
|---|---|
| Cause | Injury or overuse, genetic disorder, certain cancers, inflammation, nerve diseases, infections, certain medicines |
| Symptoms | Muscle weakness, muscle pain, paralysis, muscle twitching, muscle cramps, muscle aches, muscle spasms |
| Specific Types | Multiminicore disease, Myopathy with deficiency of iron-sulfur cluster assembly enzyme, Myostatin-related muscle hypertrophy, Myotonia congenita, Nemaline myopathy, Neuromuscular disorders, Muscular dystrophy |
| Treatments | Corticosteroids, immunosuppressants, physical therapy, occupational therapy, surgery |
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Muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common form, primarily affecting boys, although girls can exhibit milder versions of the disease. DMD affects the heart and lungs as it progresses. Becker muscular dystrophy (BMD) is the second most common type, also mainly affecting boys, with girls experiencing milder symptoms. BMD symptoms can appear at any time between the ages of 5 and 60 but usually start in the teenage years.
Emery-Dreifuss muscular dystrophy (EDMD) primarily affects male children and young adults, causing muscle weakness in the shoulders, upper arms, and shins. EDMD also affects the heart and usually progresses slowly. Facioscapulohumeral muscular dystrophy (FSHD) affects muscles in the face, shoulders, and upper arms. FSHD symptoms typically appear before the age of 20 and tend to affect one side of the body more than the other. Limb-girdle muscular dystrophy (LGMD) affects the upper arms, upper legs, shoulders, and hips and can affect people of all ages. Oculopharyngeal muscular dystrophy (OPMD) weakens the muscles in the eyelids and throat, causing droopy eyelids and difficulty swallowing.
Myotonic dystrophy is the most common type of muscular dystrophy diagnosed in adulthood, affecting men and women equally. People with myotonic dystrophy have difficulty relaxing their muscles, and the condition can also affect the heart and lungs and cause endocrine issues. Congenital muscular dystrophies (CMD) refers to a group of muscular dystrophies present at or near birth, causing overall muscle weakness and possible joint stiffness or looseness. Distal muscular dystrophy affects the hands, feet, lower arms, and lower legs.
Medications and treatments can help manage symptoms and slow the progression of muscular dystrophy. The Muscular Dystrophy Association (MDA) is a qualified tax-exempt organization in the United States that empowers people with muscular dystrophy to live longer and more independent lives. MDA provides access to expert care, resources, and a supportive community for individuals and families affected by muscular dystrophy and other neuromuscular diseases.
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Neuromuscular disorders
There are many neuromuscular disorders, and they can be inherited or caused by a spontaneous gene mutation; some may also be caused by immune system disorders. Symptoms depend on the type of disorder and the areas of the body that are affected. Some symptoms common to neuromuscular disorders include muscle weakness, twitching, cramps, aches, and pains. Some neuromuscular disorders have symptoms that begin in infancy, while others may appear in childhood or adulthood.
As there is currently no cure for neuromuscular disorders, treatment focuses on managing symptoms, delaying disease progression, and enhancing patients' quality of life. This is achieved through medications, physical therapy, occupational therapy, and, when necessary, surgery. Research is being conducted on genetic therapies and new medications to find a cure.
Some examples of neuromuscular disorders include:
- Congenital myopathy
- Hereditary spastic paraplegia
- Isaacs syndrome
- Kearns-Sayre syndrome
- Lambert-Eaton myasthenic syndrome
- Mitochondrial disorders
- Troyer syndrome
- Ataxia with vitamin E deficiency
- Christianson syndrome
- Congenital myasthenic syndrome
- Distal hereditary motor neuropathy, type II
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Genetic disorders
Muscle disorders can be caused by a variety of factors, one of them being genetic disorders. Neuromuscular disorders, for example, affect the nerves that control voluntary muscles and the nerves that communicate sensory information to the brain. When nerve cells become unhealthy or die, communication between the nervous system and muscles breaks down, resulting in muscle weakness and atrophy. Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation. Muscular dystrophy, a group of inherited diseases, causes weakness and wasting away of muscle tissue. There are multiple types of muscular dystrophy, each leading to loss of strength, increasing disability, and possible deformity. The most common types are Duchenne and Becker muscular dystrophy. Congenital muscular dystrophy, evident at birth or infancy, is caused by mutations in genes that encode for structural proteins of the basal membrane or the extracellular matrix of skeletal muscle fibres. Other types of muscular dystrophy include Facioscapulohumeral, Myotonic, Distal, Emery-Dreifuss, Oculopharyngeal, and Limb Girdle.
In addition to muscular dystrophy, there are several other genetic muscle disorders. These include congenital myopathies such as Central Core, Myotubular, Nemaline, and Ullrich/Bethlem. Metabolic muscle diseases such as Mitochondrial Myopathy, Pompe Disease, and Carnitine Palmitoyl Transferase Deficiency can also be caused by genetic factors. Furthermore, genetic disorders such as Multiminicore disease, Myosin storage myopathy, Myostatin-related muscle hypertrophy, Myotonia congenita, Paramyotonia congenita, and Rippling muscle disease can also affect muscle function.
Genetic muscle disorders can have a significant impact on an individual's quality of life. Treatment options for these disorders include medications, physical therapy, occupational therapy, and, in some cases, surgery. Research is also being conducted on genetic therapies and new medications to find a cure for these disorders.
The diagnosis and management of genetic muscle disorders involve a multidisciplinary approach with neurologists, cardiologists, pulmonologists, endocrinologists, and rehabilitative therapists. Genetic testing, muscle biopsies, blood tests, ultrasonography, and magnetic resonance imaging may be used to arrive at an accurate diagnosis. While there may not be specific treatments for some genetic muscle disorders, supportive care and addressing orthopedic, cardiac, respiratory, nutritional, and social issues are crucial aspects of patient management.
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Inflammation
There are four main types of inflammatory muscle disease: dermatomyositis, polymyositis, necrotizing autoimmune myositis, and inclusion-body myositis. These diseases may be linked to cancer, so tests to rule out cancer are often necessary for diagnosis. Inflammatory myopathies are autoimmune diseases, meaning the body's immune system attacks its own normal, healthy tissue. While the cause of inflammatory myopathies is still unknown, some scientists believe certain individuals have a genetic predisposition that is triggered by environmental exposure to things like infections, viruses, toxins, or sunlight. Symptoms of inflammatory myopathies include weakness, swelling, and muscle damage, which may appear gradually. Patients may experience difficulty with everyday tasks such as getting up from a chair, climbing stairs, or grasping objects.
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Cancer
Leiomyosarcoma is a type of soft tissue sarcoma that affects smooth muscle, often developing in the belly. Liposarcoma is another type of soft tissue tumour that can develop in the legs or retroperitoneum. Malignant peripheral nerve sheath tumours form in the layers of tissue protecting the nerves in the peripheral nervous system. Malignant schwannomas are slow-growing tumours that can affect nerves in the arms, legs, or lower back. Myxofibrosarcoma is a soft tissue tumour that may develop in fat or cartilage under the skin. Synovial sarcoma may form in joints, the belly, arms, legs, or lungs. Undifferentiated pleomorphic sarcoma is the most common type of soft tissue sarcoma.
Muscle weakness is a common symptom of advanced cancer. Tumour cells commonly metastasize to the bone in advanced cancer, disrupting normal bone remodelling and resulting in morbidity that includes muscle weakness. This can be caused by reduced muscle mass or reduced muscle function, or a combination of both. Bone metastases are classified as either osteolytic or osteoblastic (osteosclerotic) based on radiographic appearance. Breast cancer is typically associated with osteolytic or mixed lesions. Once the primary tumour has spread to the bone, it is almost always incurable, and treatment focuses on reducing skeletal-related events rather than curing the disease.
Cachexia, a common paraneoplastic syndrome, is characterized by severe wasting due to loss of skeletal muscle mass and is associated with cancer cachexia. Cancer cachexia occurs in about 80% of patients with advanced malignancy and leads to significant function deficits, contributing to approximately 20% of cancer-related deaths. There is currently no treatment for cancer-associated muscle weakness, and it is estimated that many patients experience severe muscle weakness and fatigue.
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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 skeletal muscle weakness, pain, or even paralysis.
Muscle disorders can be caused by injury or overuse, a genetic disorder, certain cancers, inflammation, nerve diseases, infections, or certain medications. In some cases, the cause of muscle disorders is unknown.
Some examples of muscle diseases include muscular dystrophy, myositis, and neuromuscular disorders. Multiminicore disease, myostatin-related muscle hypertrophy, and nemaline myopathy are also types of muscle diseases.
Symptoms of muscle diseases can vary depending on the specific disorder and the areas of the body that are affected. Some common symptoms include muscle weakness, twitching, cramps, aches, and pains. In some cases, muscle disorders can lead to paralysis.
While there is currently no cure for most muscle diseases, a variety of treatments can help manage the condition. Treatment options may include medications such as corticosteroids and immunosuppressants, physical therapy, occupational therapy, and in some cases, surgery. Maintaining physical activity is also important, as complete inactivity can worsen the disease.
