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Metabolic muscle disease, or metabolic myopathy, is a rare genetic disease that affects metabolism — the process by which the body's cells convert fuel sources into energy. Metabolic myopathies are caused by different genetic defects that impair the body's metabolism, specifically interfering with chemical reactions involved in drawing energy from food. This results in low energy levels, leading to muscle weakness, exercise intolerance, and muscle pain or cramps. Treatment options include enzyme replacement therapy, physical activity, and dietary changes, which can improve the quality of life for those with metabolic myopathies.
| Characteristics | Values |
|---|---|
| Type | Metabolic myopathies are a type of myopathy, a general term for diseases that affect the muscles that connect to bones (skeletal muscles). |
| Cause | Metabolic myopathies are caused by a genetic defect that impairs the body's metabolism, specifically the chemical changes that occur within cells during normal functioning. |
| Symptoms | Muscle weakness, exercise intolerance, muscle pain or cramps, chronic weakness, fatigue, malignant hyperthermia, and rhabdomyolysis. |
| Diagnosis | Blood test for creatine kinase (CK), electromyography (EMG) test, exercise stress test, 12-minute walk test (12MWT), forearm exercise test, muscle biopsy. |
| Treatment | Enzyme replacement therapy, diet, exercise, and avoidance of precipitating factors. |
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What You'll Learn
- Metabolic myopathies are rare genetic diseases
- Metabolic diseases of muscle interfere with chemical reactions
- Metabolic myopathies are caused by defects in biochemical metabolism
- Pompe disease is a metabolic disorder with a successful commercial treatment
- Metabolic myopathies can be inherited or acquired later in life
Metabolic myopathies are rare genetic diseases
Muscles require a lot of energy to work properly, and metabolic myopathies interfere with the chemical reactions involved in drawing energy from food. When energy levels become too low, muscle weakness, and exercise intolerance with muscle pain or cramps may occur. Metabolic myopathies are generally caused by an inherited genetic mutation, an inborn error of metabolism. The genetic mutation typically has an autosomal recessive hereditary pattern, making it fairly rare to inherit. Even more rarely, it can be caused by a random de novo genetic mutation, or an autosomal dominant, X-linked, or mitochondrial mutation.
Metabolic myopathies cause the underproduction of adenosine triphosphate (ATP) within the muscle cell. Muscle cells convert sugar and fat into ATP through the work of enzymes. ATP enables muscles to contract and function normally. People with metabolic myopathies lack certain enzymes involved in providing energy that helps muscles contract. Depending on which enzyme is affected, a high-protein or low-fat diet may be helpful. For example, McArdle disease is due to a lack of an enzyme that assists in carbohydrate metabolism.
Metabolic myopathies have varying levels of symptoms, being most severe when developed during infancy. Those who do not develop a form of metabolic myopathy until they are in their young adult or adult life tend to have more treatable symptoms that can be helped with a change in diet and exercise. Due to the rare nature of these diseases, it is very common for them to be misdiagnosed, even multiple times.
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Metabolic diseases of muscle interfere with chemical reactions
Metabolic myopathies are rare genetic diseases that affect metabolism—the processes through which the body's cells convert fuel sources into usable energy. Metabolic diseases of muscle interfere with chemical reactions involved in drawing energy from food. Muscles require a lot of energy to work properly, and when energy levels become too low, muscle weakness, exercise intolerance, and muscle pain or cramps may occur. Metabolic myopathies are caused by a lack of certain enzymes involved in providing energy that helps muscles contract. For example, McArdle disease is due to a lack of an enzyme that assists in carbohydrate metabolism.
Metabolic myopathies are generally caused by an inherited genetic mutation, an inborn error of metabolism. They are generally genetic defects that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell. Adenosine triphosphate (ATP) enables muscles to contract and function normally. Metabolic myopathies cause the underproduction of ATP within the muscle cell. The symptoms of a metabolic myopathy can be easily confused with the symptoms of another disease.
In a few metabolic muscle disorders, symptoms aren't caused by a lack of energy, but rather by unused fuel molecules that build up inside muscle cells. This buildup may damage the cells, leading to chronic weakness. Mitochondrial myopathy is caused by a defect in the mitochondria, which are the energy-producing parts of cells. These conditions have muscle weakness, but also a variety of other symptoms, as mitochondrial disorders typically affect other organ systems like the heart, brain, and gastrointestinal tract.
There is no specific treatment for many metabolic muscle disorders. However, treatment in the form of physical activity and diet can improve the quality of life for people with metabolic myopathy. For one type of metabolic myopathy called Pompe disease, a new treatment replaces the missing acid maltase enzyme with a synthetic version.
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Metabolic myopathies are caused by defects in biochemical metabolism
Metabolic myopathies are rare genetic diseases that affect metabolism, or the processes through which the body's cells convert fuel sources into usable energy. They are caused by defects in biochemical metabolism that primarily affect muscle function. Metabolic myopathies are generally caused by inherited genetic mutations, or inborn errors of metabolism, that interfere with the ability to create energy.
Muscles require a lot of energy to function properly, and metabolic diseases of muscle interfere with the chemical reactions involved in drawing energy from food. When energy levels become too low, muscle weakness, pain, and cramps may occur. Metabolic myopathies are characterised by the underproduction of adenosine triphosphate (ATP) within the muscle cell. ATP is often referred to as the "'molecular unit of currency' of intracellular energy transfer". It is needed for muscle contraction and enables muscles to contract and function normally.
Different forms of metabolic myopathies are distinguished by which enzyme is deficient or missing. For example, McArdle disease is due to a lack of an enzyme that assists in carbohydrate metabolism. Pompe disease, another form of metabolic myopathy, is caused by acid maltase deficiency. Mitochondrial metabolic myopathy results from a lack of a particular enzyme normally present in the mitochondria, the energy-producing parts of cells.
The symptoms of metabolic myopathies vary among individuals. Some people with the condition may live symptom-free as their cells have found a different pathway for creating energy to power muscles. In other cases, symptoms may appear depending on which enzyme is missing. Metabolic myopathies are often misdiagnosed as muscular dystrophies or inflammatory myopathies, and can cause a serious reaction to general anaesthesia called malignant hyperthermia.
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Pompe disease is a metabolic disorder with a successful commercial treatment
Metabolic muscle diseases, or metabolic myopathies, are rare genetic diseases that affect metabolism—the processes through which the body's cells convert fuel sources into usable energy. Metabolic myopathies were first recognised in the second half of the 20th century. Each disorder is caused by a different genetic defect that impairs the body's metabolism.
Pompe disease is a metabolic disorder characterised by a deficiency in the enzyme acid alpha-glucosidase (GAA), also known as acid maltase. This enzyme is responsible for breaking down glycogen, a complex sugar that serves as a source of energy for the body. In Pompe disease, the deficiency of this enzyme leads to a buildup of glycogen in the lysosomes, which are small compartments within cells that recycle waste products. This buildup interferes with cellular function and causes damage to cells and tissues, particularly in the heart and skeletal muscles. Pompe disease is an inherited genetic disorder, passed down through autosomal recessive inheritance patterns.
The treatment for Pompe disease focuses on replacing the missing or malfunctioning enzyme through enzyme replacement therapy (ERT). This therapy involves administering genetically engineered enzymes intravenously to mimic the function of the naturally occurring enzyme. The medications used in ERT, such as alglucosidase alfa and avalglucosidase alfa, help decrease heart size, maintain normal heart function, improve muscle function and strength, slow the progression of the disorder, and reduce glycogen buildup. ERT is a successful commercial treatment for Pompe disease, improving the quality of life and prolonging the lifespan of those affected.
The life expectancy of a child with untreated infantile Pompe disease is typically no more than two years. However, with early detection and treatment, the lifespan can be significantly prolonged. The severity of Pompe disease varies depending on the age of onset, with infantile-onset cases being the most severe. Late-onset Pompe disease, which occurs during teenage or adult years, has a better prognosis, with a life expectancy of around 30 years when onset occurs in adolescence and 50 years when it develops in adulthood.
In addition to ERT, supportive care is crucial in managing Pompe disease. Patients may require the expertise of various specialists, including neurologists, respiratory therapists, cardiologists, and physiotherapists. Lifestyle modifications, such as adopting a healthy diet, exercising within limits, and avoiding smoking, can also help maintain and improve overall health. Genetic testing within families is important for early detection, increasing the success of treatments, and assisting in family planning.
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Metabolic myopathies can be inherited or acquired later in life
Metabolic myopathies are rare genetic diseases that affect metabolism — the processes through which the body’s cells convert fuel sources into usable energy. They are generally caused by an inherited genetic mutation, an inborn error of metabolism. However, in some cases, metabolic myopathies can also be acquired later in life due to other factors.
Metabolic myopathies are characterised by the deficiency or dysfunction of essential metabolites or fuels needed to generate energy for muscle contraction. This results in a low ATP reservoir within the muscle cell. Muscles require a lot of energy to work properly, and metabolic myopathies interfere with the chemical reactions involved in drawing energy from food. People with metabolic myopathies lack certain enzymes involved in providing energy that helps muscles contract.
Metabolic myopathies can be inherited through genetic mutations that are typically autosomal recessive, making them fairly rare. Some metabolic myopathies are carried on the X chromosome and affect more men than women. However, other inherited forms of myopathy carried on other chromosomes affect everyone equally. In some cases, metabolic myopathies can be caused by random de novo genetic mutations, autosomal dominant inheritance, X-linked inheritance, or mitochondrial inheritance.
In addition to inherited metabolic myopathies, there are also acquired metabolic myopathies that can develop later in life. These acquired myopathies can arise due to other medical disorders, infections, exposure to certain medications, electrolyte imbalances, or environmental factors. For example, in livestock, an acquired environmental GSD (a type of metabolic myopathy) is caused by intoxication with the alkaloid castanospermine. In humans, endocrine myopathies are more common than other types of acquired myopathies and are more prevalent in females than males.
The symptoms of metabolic myopathies can vary depending on the specific type and the individual. They tend to be most severe when developed during infancy, while those that manifest in young adulthood or adulthood tend to have more treatable symptoms. Symptoms may include muscle weakness, exercise intolerance, muscle pain, and fatigue. Treatment options include physical therapy, exercise, dietary changes, and specific treatments based on the type of myopathy.
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Frequently asked questions
Metabolic muscle disease, also known as metabolic myopathy, is a rare genetic disease that affects metabolism — the processes through which the body's cells convert fuel sources into usable energy. People with metabolic myopathies lack certain enzymes involved in providing energy that helps muscles contract.
Metabolic muscle diseases are caused by different genetic defects that impair the body’s metabolism. These defects interfere with the chemical reactions involved in drawing energy from food, causing low energy levels and muscle weakness.
Metabolic myopathies are first suspected when a patient reports a history of intermittent exercise-induced muscle cramps. A blood test for creatine kinase (CK) can be done to test for signs of tissue breakdown. An electromyography (EMG) test is also used to rule out other disorders.
Symptoms of metabolic muscle disease include muscle weakness, exercise intolerance, muscle pain, and cramps. Some people may experience more severe symptoms such as rhabdomyolysis, fixed muscle weakness, or de-conditioning of muscles. In some cases, metabolic myopathies may cause a serious reaction to general anaesthesia called malignant hyperthermia.
There is currently no specific treatment for many metabolic muscle diseases. Treatment strategies may involve instructing patients to avoid precipitating factors and managing symptoms through diet and exercise. Enzyme replacement therapy has been successful in treating Pompe disease, a type of metabolic myopathy.
While there may be no way to prevent the disease itself, early diagnosis and appropriate management can help improve the quality of life for people with metabolic myopathy. Maintaining a healthy weight, engaging in regular physical activity, and following a recommended diet and treatment plan are crucial.
