Dominic Stone
Muscle diseases, also known as muscle disorders, are conditions that affect the human muscle system. They are characterised by muscle weakness, which can lead to twitching, cramps, aches and pains. Some muscle disorders are inherited, while others are caused by spontaneous gene mutations or immune system disorders. While there is currently no cure for muscle diseases, treatments such as medications, physical therapy, and in some cases, surgery, can help manage the condition and enhance the patient's quality of life.
| Characteristics | Values |
|---|---|
| Definition | Diseases and disorders that affect the human muscle system |
| Main manifestation | Skeletal muscle weakness |
| Types | Neuromuscular disorders, muscular dystrophy, congenital myopathy, Brody myopathy, actin-accumulation myopathy, sarcopenia, etc. |
| Causes | Inherited gene mutations, spontaneous gene mutations, immune system disorders |
| Symptoms | Muscle weakness, twitching, cramps, aches, pains, trouble walking, trouble using arms, shortening of muscles or tendons around joints (contractures), inability to relax muscles following contractions, drooping eyelids, long thin faces, etc. |
| Diagnosis | Electromyography (EMG), blood tests, muscle biopsy, genetic analysis |
| Treatment | Corticosteroids, immunosuppressants, physical therapy, occupational therapy, surgery |
| Prognosis | No cure, progressive condition, treatments focus on managing symptoms and delaying progression |
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What You'll Learn
Neuromuscular disorders
Muscle diseases encompass a wide range of disorders that affect the muscles, nerves, or neuromuscular junctions. Neuromuscular disorders are a specific group of conditions that impact the nerves controlling voluntary muscles and those that transmit sensory information back to the brain. These disorders arise when nerve cells, or neurons, become unhealthy or die, disrupting communication between the nervous system and muscles. This breakdown leads to muscle atrophy, characterised by weakness and wasting away of muscle tissue.
Symptoms of neuromuscular disorders vary depending on the specific type of disorder and the affected body areas. Common symptoms include muscle weakness, twitching, cramps, aches, and pains. Some disorders exhibit symptoms from infancy, while others may manifest during childhood or adulthood.
The impact of neuromuscular disorders can be profound, leading to increasing disability and possible deformity. Muscular dystrophy, for example, is a group of inherited diseases causing muscle weakness and wasting. Duchenne muscular dystrophy and Becker muscular dystrophy are the most common forms.
To diagnose neuromuscular disorders, physicians conduct a thorough examination, including a review of the patient's medical and family history. They may also assess reflexes, muscle strength, and other symptoms to determine the need for further diagnostic tests. Treatment by an experienced multidisciplinary team is crucial for managing these complex disorders.
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Muscular dystrophy
Each type of muscular dystrophy is caused by a genetic mutation particular to that type of disease, and most of these mutations are inherited. In muscular dystrophy, abnormal genes interfere with the production of proteins needed to form healthy muscle. The symptoms of muscular dystrophy get worse over time and can include progressive muscle weakness, trouble walking and using arms, shortening of muscles or tendons around joints, and muscle pain and cramps. Some types of muscular dystrophy also affect the heart and lungs and may cause endocrine issues such as thyroid disease and diabetes.
The signs and symptoms of muscular dystrophy depend on the specific type and the areas of the body affected. For example, in facioscapulohumeral muscular dystrophy, muscle weakness typically begins in the face, hip, and shoulders, while in limb-girdle muscular dystrophy, the hip and shoulder muscles are usually affected first. Some types of muscular dystrophy are defined by a specific feature, such as myotonic dystrophy, which is characterized by an inability to relax muscles following contractions.
There is currently no cure for muscular dystrophy, but 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 and other neuromuscular conditions. MDA has led the way in accelerating research, advancing care, and advocating for the support and inclusion of families affected by these diseases.
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Muscle spasms
While muscle spasms usually resolve on their own, there are treatments and preventative measures that can help. Drinking plenty of water, stretching before exercise or repetitive movements, and massaging or stretching the affected muscle during a spasm can provide relief. In cases where an underlying neurological condition is causing the muscle spasms, doctors may recommend antispasmodic medication.
Although muscle spasms are typically not a cause for concern, they can sometimes indicate an underlying health issue. If an individual experiences severe or persistent muscle spasms, it is recommended to consult a doctor for further evaluation.
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Congenital myopathy
Muscle diseases, or neuromuscular disorders, affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. Congenital myopathy is a neuromuscular disorder that is characterised by a lack of muscle tone or floppiness at birth. It is a genetic muscle disorder that can be passed from parent to child. The word myopathy means "disease of muscle".
General symptoms of congenital myopathy include the slow, progressive loss of muscle tone, characterised by floppiness (hypotonia) and general weakness. Early motor skills and other critical developmental milestones may be delayed. Toddlers with this disorder usually have mild muscle weakness and may be prone to falling or stumbling. The muscles of the pelvis, neck, and shoulder area are most commonly affected. However, symptoms are typically not progressive during adulthood, and most people with congenital myopathy walk normally as adults. Nevertheless, some physical activities may be slightly impaired.
Nemaline myopathy (NM) is a type of congenital myopathy characterised by abnormal rod- or thread-like structures in muscle fibres. These abnormal rods are associated with problems in the contraction and tone of skeletal muscles, leading to muscle weakness. NM has six subtypes based on age and severity: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. Another type of congenital myopathy is central core disease (CCD), which is characterised by circular regions in the middle of type 1 muscle fibres that do not contain mitochondria. CCD is more common in infants with hypotonia or children with delayed motor development.
Currently, there is no cure for congenital myopathy. However, treatments focus on managing symptoms, preventing possible life-threatening complications, and providing various forms of therapy such as physical, occupational, and speech therapy. Gene therapy also provides treatment options for some types of congenital myopathies. Clinical trials are ongoing to improve the understanding, detection, treatment, and prevention of this disorder.
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Sarcopenia
The diagnosis of sarcopenia is based on decreased levels of three key traits: muscle strength, muscle quantity or quality, and physical performance. Sarcopenia can significantly impact an individual's quality of life, impeding their ability to perform daily activities and increasing their risk of complications during surgical procedures. The condition is also associated with a higher risk of mortality and morbidity.
The primary symptom of sarcopenia is muscle weakness, along with other possible symptoms such as loss of stamina, difficulty in performing daily tasks, walking slowly, trouble climbing stairs, poor balance, and a decrease in muscle size. The development of sarcopenia is influenced by various factors, including the natural ageing process, physical inactivity, inadequate protein intake, chronic illnesses such as COPD, kidney disease, diabetes, and cancer, as well as hormonal changes and inflammatory pathway activation.
While there is no standardised definition or measurement for sarcopenia, researchers and clinicians have advocated for the inclusion of muscle strength or functional measurements, such as grip strength and walking speed, along with muscle mass assessment, to improve the diagnostic accuracy of the condition. The Society of Sarcopenia, Cachexia, and Wasting Disorders has proposed a definition that incorporates limited mobility and walking speed with muscle mass measurements. Additionally, the European Working Group on Sarcopenia in Older People (EWGSOP) has recommended the use of measures of low muscle mass, strength, and performance in the clinical definition.
Although there is no cure for sarcopenia, adequate nutrition and targeted exercise remain the gold standard for therapy. Pharmaceutical agents targeting multiple biological pathways are also being developed to address this disease.
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Frequently asked questions
Muscle diseases are disorders that affect the human muscle system, causing skeletal muscle weakness and wasting away of muscle tissue.
There are various types of muscle diseases, including neuromuscular disorders, muscular dystrophy, myotonic MD, sarcopenia, congenital myopathy, and mitochondrial disorders.
Muscle diseases can be caused by genetic mutations, inherited defective genes, immune system disorders, or other factors. In the case of muscular dystrophy, abnormal genes interfere with the production of proteins needed for healthy muscles.
Symptoms vary depending on the specific muscle disease but often include muscle weakness, twitching, cramps, aches, pains, and progressive disability. Some muscle diseases also affect the heart or breathing, making them life-threatening.
Currently, there is no cure for most muscle diseases, but treatments such as medications, physical therapy, occupational therapy, and surgery can help manage symptoms and slow disease progression. Corticosteroids and immunosuppressants may be prescribed to reduce cramping and spasms and manage immune system activity.
