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Amblyopia. Anisometropia is a condition in which a person's eyes have substantially differing refractive power. [ 1] Generally, a difference in power of one diopter (1D) is the threshold for diagnosis of the condition. [ 2][ 3] Patients may have up to 3D of anisometropia before the condition becomes clinically significant due to headache, eye ...
Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds and grooves . [3]
Corticobasal degeneration. Corticobasal degeneration ( CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. [ 1] CBD symptoms typically begin in people from 50 to 70 years of age, and typical survival before death is eight years.
Wernicke encephalopathy ( WE ), also Wernicke's encephalopathy, [ 1] or wet brain is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B 1 ). [ 2] The condition is part of a larger group of thiamine deficiency disorders that ...
Neurology. Primary familial brain calcification[ 1] (PFBC), also known as familial idiopathic basal ganglia calcification ( FIBGC) and Fahr's disease, [ 1] is a rare, [ 2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Frequency. 1 in 1,000,000. Stiff-person syndrome ( SPS ), also known as stiff-man syndrome, [ 1] is a rare neurological disorder of unclear cause characterized by progressive muscular rigidity and stiffness. The stiffness primarily affects the truncal muscles and is characterised by spasms, resulting in postural deformities.
Gerstmann–Sträussler–Scheinker syndrome. A person with inherited prion disease has cerebellar atrophy. This is quite typical of GSS. difficulty speaking, developing dementia, memory loss, vision loss. Gerstmann–Sträussler–Scheinker syndrome ( GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative ...
Ataxia–telangiectasia. Ataxia–telangiectasia ( AT or A–T ), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [ 1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2]