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Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness and pain, and can interfere with daily life activities. Myopathies are derived from the Greek words myo for muscle, and pathy for suffering. They are often caused by a disruption in the muscle tissue integrity, and the metabolic stability which may be triggered by inherited genetic diseases, metabolic errors, certain drugs and toxins, bacterial or viral infections, inflammation, minerals, electrolytes, and hormonal irregularities.
| Characteristics | Values |
|---|---|
| Definition | Myopathies are a heterogeneous group of disorders primarily affecting the skeletal muscle structure, metabolism or channel function |
| Symptoms | Muscle weakness, muscle pain, rhabdomyolysis, proximal muscle weakness, difficulty with routine tasks, developmental delays in learning motor skills, problems with the heart, brain, or gastrointestinal tract |
| Causes | Inherited genetic diseases, metabolic errors, certain drugs and toxins, bacterial or viral infections, inflammation, minerals, electrolytes, hormonal irregularities, degeneration of muscular tissue due to structural support protein abnormalities |
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What You'll Learn
Muscle weakness
Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness that interferes with daily life activities. Muscle pain is also a common finding.
Myopathies can affect different muscle groups, such as the pelvic girdle, shoulder girdle, thighs, back muscles, or fingers. Some myopathies, such as muscular dystrophies, cause progressive muscle weakness that often begins in the face, hips, and shoulders.
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 also cause problems with the heart, brain, or gastrointestinal tract.
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Muscle pain
Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness and pain, which can interfere with daily life activities. Myopathies can make it difficult to do routine tasks such as getting dressed, bathing, brushing your hair or teeth, climbing stairs or getting out of bed. They can also cause difficulty with raising up from a sitting position or practising any above-head activities.
Myopathies are often associated with other symptoms such as myalgia, rashes, fatigue, cramps and dark urine (a sign of renal damage). They can also be associated with rhabdomyolysis, which can be triggered by vigorous exercise.
The cause of myopathies is usually a disruption in the muscle tissue integrity and metabolic stability, which may be triggered by inherited genetic diseases, metabolic errors, certain drugs and toxins, bacterial or viral infections, inflammation, minerals, electrolytes or hormonal irregularities.
Congenital myopathies can affect all of the skeletal muscles and often involve developmental delays in learning motor skills such as crawling or walking. Mitochondrial myopathies, caused by mutations in the mitochondria, can also cause problems with the heart, brain or gastrointestinal tract. Muscular dystrophies, another type of myopathy, are characterised by progressive weakness in skeletal muscles due to the degeneration of muscular tissue caused by structural support protein abnormalities.
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Rhabdomyolysis
Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness, which can interfere with daily life activities, and muscle pain. Myopathies are derived from the Greek words 'myo' for muscle, and 'pathy' for suffering, which means muscle disease.
Myopathies can be caused by a disruption in the muscle tissue integrity, and the metabolic stability which may be triggered by inherited genetic diseases, metabolic errors, certain drugs and toxins, bacterial or viral infections, inflammation, minerals, electrolytes, and hormonal irregularities. Some myopathies are associated with rhabdomyolysis, which can be identified by dark urine as a sign of renal damage, particularly after vigorous exercises like running marathons.
The treatment for rhabdomyolysis focuses on preventing kidney damage and supporting the kidneys in their recovery. This may include intravenous (IV) fluids to increase urine output and flush myoglobin from the kidneys, as well as medications to manage pain and reduce inflammation. In severe cases, dialysis may be necessary to filter the blood and remove waste products that the kidneys are unable to process.
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Congenital myopathies
Myopathies are a group of disorders that affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness and pain, and can make it difficult to do routine tasks such as getting dressed, bathing, brushing your hair or climbing stairs.
There are several different subtypes of congenital myopathy, and many are caused by changes (mutations) in specific genes. They differ in severity and onset of symptoms, cellular characteristics under a microscope, and prognosis. More than 40 types of congenital myopathies have been reported, involving more than 30 causative genes. The distinctive features of congenital myopathies include pleiotropy and genetic heterogeneity.
Some congenital myopathies are mitochondrial myopathies, which are caused by mutations in the mitochondria – the 'powerhouses' or energy-producing parts of the body's cells. In addition to muscle weakness, they may also cause problems with the heart, brain, or gastrointestinal tract.
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Mitochondrial myopathies
Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function. They usually present with muscle weakness and pain, and can make it difficult to do routine tasks such as getting dressed, climbing stairs or brushing hair.
Muscular and neurological problems, such as muscle weakness, exercise intolerance, hearing loss, trouble with balance and coordination, seizures, and learning deficits, are common features of mitochondrial disease because muscle cells and nerve cells have especially high energy needs. Other frequent complications include impaired vision, heart defects, diabetes, and stunted growth.
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Frequently asked questions
Myopathies are a group of disorders that primarily affect the skeletal muscle structure, metabolism or channel function.
Myopathy is characterised by muscle weakness, most commonly in the upper arms, shoulders and thighs. Other symptoms include muscle pain, fatigue, cramps, and difficulty with routine tasks such as getting dressed, climbing stairs, or brushing teeth or hair.
Myopathies are usually caused by a disruption in the muscle tissue integrity and metabolic stability, which may be triggered by inherited genetic diseases, metabolic errors, certain drugs and toxins, bacterial or viral infections, inflammation, or hormonal irregularities.
