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Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. [ 1 ] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the ...
[1] [2] It is not completely clear how the build-up of these VLCFAs causes the symptoms seen with this condition, however research suggests that this abnormal accumulation triggers an inflammation in the nervous system which leads to demyelination. [1] Demyelination leads to the loss of white matter, leukodystrophy, in the brain and spinal cord.
As a progressive, chronic condition, signs and symptoms of Fuchs dystrophy gradually progress over decades of life, starting in middle age. Early symptoms include blurry vision upon wakening which improves during the morning, [2] as fluid retained in the cornea is unable to evaporate through the surface of the eye when the lids are closed overnight.
Prognosis. fatal. Frequency. 1 in 40,000 births. Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
This condition is inherited in an autosomal recessive manner. Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5.
The good news is that you can make simple modifications and may be able to rely on natural remedies. Self-care for dry eye syndrome includes daily use of drops, consuming certain foods and ...
Retinal hemorrhage (UK English: retinal haemorrhage) is a disorder of the eye in which bleeding occurs in the retina, the light sensitive tissue, located on the back wall of the eye. [ 1 ] There are photoreceptor cells in the retina called rods and cones, which transduce light energy into nerve signals that can be processed by the brain to form ...
Hyperekplexia (/ ˌhaɪ.pər.ɛkˈplɛk.si.ə /; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.