Progressive external ophthalmoplegia
अंतिम अद्यतन 8 Sept 2020
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Progressive external ophthalmoplegia is a condition characterised by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).
विवरण
Progressive external ophthalmoplegia is a condition characterised by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).
When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.
Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.
Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.
Inheritance patterns
The source lists the following possible inheritance patterns: mitochondrial; Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Chronic progressive external ophthalmoplegia
CPEO
PEO
Related patient information and medicines
Patient information leaflet
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मांसपेशियों का अपविकास
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मल्टीपल स्क्लेरोसिस
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मांसपेशियों की कमजोरी
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पलकों का ऐंठन
पलकों का ऐंठन is a condition in which blinking or spasmodic closing of the eyes occurs at an increased rate. It ranges from a mild, embarrassing condition of twitching or fluttering of an eyelid to severe spasms of eye closure which interrupt useful vision. Secondary blepharospasm is a common response to many common eye conditions, and can be.
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जीवन के अंत की देखभाल
The goal of advance care planning is to help ensure that people receive medical. Advance care planning enables an individual to think about what they would like to happen to them in the event that they lose the capacity to take informed decisions about their care. How long is end of life care. This will depend on the individual circumstances and.
अधिक पठन और संदर्भ
- Progressive external ophthalmoplegia; MedlinePlus, National Library of Medicine.
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