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Myasthenia gravis
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Myasthenia gravis
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, and difficulties in talking and walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.
Myasthenia gravis is an autoimmune disease of the neuromuscular junction which results from antibodies that block or destroy nicotinic acetylcholine receptors (AChR) at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions. Most cases are due to immunoglobulin G1 (IgG1) and IgG3 antibodies that attack AChR in the postsynaptic membrane, causing complement-mediated damage and muscle weakness. Rarely, an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia. Babies of mothers with myasthenia may have symptoms during their first few months of life, known as neonatal myasthenia or more specifically transient neonatal myasthenia gravis. Diagnosis can be supported by blood tests for specific antibodies, the edrophonium test, electromyography (EMG), or a nerve conduction study.
Mild forms of myasthenia gravis may be treated with medications known as acetylcholinesterase inhibitors, such as neostigmine and pyridostigmine. Immunosuppressants, such as prednisone or azathioprine, may also be required for more severe symptoms that acetylcholinesterase inhibitors are insufficient to treat. The surgical removal of the thymus may improve symptoms in certain cases. Plasmapheresis and high-dose intravenous immunoglobulin may be used when oral medications are insufficient to treat severe symptoms, including during sudden flares of the condition. If the breathing muscles become significantly weak, mechanical ventilation may be required. Once intubated acetylcholinesterase inhibitors may be temporarily held to reduce airway secretions.
Myasthenia gravis affects 50 to 200 people per million. It is newly diagnosed in 3 to 30 people per million each year. Diagnosis has become more common due to increased awareness. Myasthenia gravis most commonly occurs in women under the age of 40 and in men over the age of 60. It is uncommon in children. With treatment, most live to an average life expectancy. The word is from the Greek mys, "muscle" and asthenia "weakness", and the Latin gravis, "serious".
The initial, main symptom in myasthenia gravis is painless weakness of specific muscles, not fatigue. The muscle weakness becomes progressively worse (fatigue) during periods of physical activity and improves after periods of rest. Typically, the weakness and fatigue are worse toward the end of the day. Myasthenia gravis generally starts with ocular (eye) weakness; it might then progress to a more severe generalized form, characterized by weakness in the extremities or in muscles that govern basic life functions.
In about two-thirds of people, the initial symptom of myasthenia gravis is related to the muscles around the eye. Eyelid drooping (ptosis may occur due to weakness of m. levator palpebrae superioris) and double vision (diplopia, due to weakness of the extraocular muscles). Eye symptoms tend to get worse when watching television, reading, or driving, particularly in bright conditions. Consequently, some affected individuals choose to wear sunglasses. The term "ocular myasthenia gravis" describes a subtype of myasthenia gravis where muscle weakness is confined to the eyes, i.e. extraocular muscles, m. levator palpebrae superioris, and m. orbicularis oculi. This subtype may evolve into generalized myasthenia gravis, usually after a few years. If an individual with ocular myasthenia gravis does not generalize for three or more years after the onset of symptoms, then generalized myasthenia gravis is unlikely to occur.
The weakness of the muscles involved in swallowing may lead to swallowing difficulty (dysphagia). Typically, this means that some food may be left in the mouth after an attempt to swallow, or food and liquids may regurgitate into the nose rather than go down the throat (velopharyngeal insufficiency). Weakness of the muscles that move the jaw (muscles of mastication) may cause difficulty chewing. In individuals with myasthenia gravis, chewing tends to become more tiring when chewing tough, fibrous foods. Difficulty in swallowing, chewing, and speaking is the first symptom in about one-sixth of individuals.
Weakness of the muscles involved in speaking may lead to dysarthria and hypophonia. Speech may be slow and slurred, or have a nasal quality. In some cases, a singing hobby or profession must be abandoned.
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Myasthenia gravis
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, and difficulties in talking and walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.
Myasthenia gravis is an autoimmune disease of the neuromuscular junction which results from antibodies that block or destroy nicotinic acetylcholine receptors (AChR) at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions. Most cases are due to immunoglobulin G1 (IgG1) and IgG3 antibodies that attack AChR in the postsynaptic membrane, causing complement-mediated damage and muscle weakness. Rarely, an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia. Babies of mothers with myasthenia may have symptoms during their first few months of life, known as neonatal myasthenia or more specifically transient neonatal myasthenia gravis. Diagnosis can be supported by blood tests for specific antibodies, the edrophonium test, electromyography (EMG), or a nerve conduction study.
Mild forms of myasthenia gravis may be treated with medications known as acetylcholinesterase inhibitors, such as neostigmine and pyridostigmine. Immunosuppressants, such as prednisone or azathioprine, may also be required for more severe symptoms that acetylcholinesterase inhibitors are insufficient to treat. The surgical removal of the thymus may improve symptoms in certain cases. Plasmapheresis and high-dose intravenous immunoglobulin may be used when oral medications are insufficient to treat severe symptoms, including during sudden flares of the condition. If the breathing muscles become significantly weak, mechanical ventilation may be required. Once intubated acetylcholinesterase inhibitors may be temporarily held to reduce airway secretions.
Myasthenia gravis affects 50 to 200 people per million. It is newly diagnosed in 3 to 30 people per million each year. Diagnosis has become more common due to increased awareness. Myasthenia gravis most commonly occurs in women under the age of 40 and in men over the age of 60. It is uncommon in children. With treatment, most live to an average life expectancy. The word is from the Greek mys, "muscle" and asthenia "weakness", and the Latin gravis, "serious".
The initial, main symptom in myasthenia gravis is painless weakness of specific muscles, not fatigue. The muscle weakness becomes progressively worse (fatigue) during periods of physical activity and improves after periods of rest. Typically, the weakness and fatigue are worse toward the end of the day. Myasthenia gravis generally starts with ocular (eye) weakness; it might then progress to a more severe generalized form, characterized by weakness in the extremities or in muscles that govern basic life functions.
In about two-thirds of people, the initial symptom of myasthenia gravis is related to the muscles around the eye. Eyelid drooping (ptosis may occur due to weakness of m. levator palpebrae superioris) and double vision (diplopia, due to weakness of the extraocular muscles). Eye symptoms tend to get worse when watching television, reading, or driving, particularly in bright conditions. Consequently, some affected individuals choose to wear sunglasses. The term "ocular myasthenia gravis" describes a subtype of myasthenia gravis where muscle weakness is confined to the eyes, i.e. extraocular muscles, m. levator palpebrae superioris, and m. orbicularis oculi. This subtype may evolve into generalized myasthenia gravis, usually after a few years. If an individual with ocular myasthenia gravis does not generalize for three or more years after the onset of symptoms, then generalized myasthenia gravis is unlikely to occur.
The weakness of the muscles involved in swallowing may lead to swallowing difficulty (dysphagia). Typically, this means that some food may be left in the mouth after an attempt to swallow, or food and liquids may regurgitate into the nose rather than go down the throat (velopharyngeal insufficiency). Weakness of the muscles that move the jaw (muscles of mastication) may cause difficulty chewing. In individuals with myasthenia gravis, chewing tends to become more tiring when chewing tough, fibrous foods. Difficulty in swallowing, chewing, and speaking is the first symptom in about one-sixth of individuals.
Weakness of the muscles involved in speaking may lead to dysarthria and hypophonia. Speech may be slow and slurred, or have a nasal quality. In some cases, a singing hobby or profession must be abandoned.
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