Kearns-Sayer syndrome: Difference between revisions
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'''Synonyms:''' Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome | |||
Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of: | |||
chronic progressive | |||
EXTERNAL OPHTHALMOPLEGIA | |||
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.')" onmouseout="HideBulle()" class="menudesc">external ophthalmoplegia, | |||
cardiomyopathy ( | |||
CARDIOMYOPATHIES | |||
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).')" onmouseout="HideBulle()" class="menudesc">CARDIOMYOPATHIES) with conduction block, | |||
RETINITIS PIGMENTOSA | |||
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.')" onmouseout="HideBulle()" class="menudesc">RETINITIS PIGMENTOSA. | |||
Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) | |||
Revision as of 07:48, 9 January 2009
Synonyms: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome
Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of:
chronic progressive
EXTERNAL OPHTHALMOPLEGIA
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.')" onmouseout="HideBulle()" class="menudesc">external ophthalmoplegia, cardiomyopathy (
CARDIOMYOPATHIES
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).')" onmouseout="HideBulle()" class="menudesc">CARDIOMYOPATHIES) with conduction block, RETINITIS PIGMENTOSA
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.')" onmouseout="HideBulle()" class="menudesc">RETINITIS PIGMENTOSA.
Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)