WebAug 28, 2024 · Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease (CACH-VWM) is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This leukodystrophy disorder causes deterioration of the CNS white matter, which consists of nerve fibers covered by myelin. WebClassically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a ...
Vanishing White Matter Disease - United Leukodystrophy Foundation
Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous system (CNS). White matter is tissue made up of bundles of nerve fibers (axons) that connect nerve cells. The fibers are covered and protected by an insulating layer of proteins and fatty materials … See more All leukodystrophies are the result of genetic defects (mutations). Myelin, which is whitish in color and makes up much of the white matter in the brain, is a complex substance made up of many different proteins and lipids … See more Consider participating in a clinical trial so clinicians and scientists can learn more about leukodystrophy. Clinical research uses human … See more Diagnosing leukodystrophy Generally, a diagnosis of leukodystrophy is made based on medical and family health history, physical and … See more The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of … See more Webdisease noun uk / dɪˈziːz / us / dɪˈziːz / B1 [ C or U ] (an) illness of people, animals, plants, etc., caused by infection or a failure of health rather than by an accident: a contagious / … boothmans
10 Horrifying Diseases You Definitely Don’t Want To …
WebJun 30, 2024 · Dermatomyositis (dur-muh-toe-my-uh-SY-tis) is an uncommon inflammatory disease marked by muscle weakness and a distinctive skin rash. The condition can … WebJul 27, 2024 · Vanishing white matter disease (VWMD), also known as childhood ataxia with central hypomyelination (CACH disease), is an autosomal recessive leukoencephalopathy. It is caused by mutations in the genes EIF2B1–5 that are involved in initiation and regulation of protein synthesis. hatchet read aloud chapter 9