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Nystagmus. Nystagmus is a condition of involuntary (or voluntary, in some cases) [1] eye movement. [2] People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. [3] In normal eyesight, while the head rotates about an axis, distant visual images are sustained by ...
Ribose-5-phosphate isomerase deficiency (RPID) is a rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway.With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.
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 ...
Frequency. 1 in 50,000 (United States) Friedreich's ataxia ( FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of coordination in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age.
Causes. Genetic mutations. Congenital insensitivity to pain with anhidrosis ( CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental. CIPA is the fourth type of hereditary sensory and autonomic ...
A demyelinating disease refers to any disease affecting the nervous system where the myelin sheath surrounding neurons is damaged. [ 1] This damage disrupts the transmission of signals through the affected nerves, resulting in a decrease in their conduction ability. Consequently, this reduction in conduction can lead to deficiencies in ...
Gerstmann–Sträussler–Scheinker syndrome ( GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. [ 1] It is, however, classified with the transmissible ...
Alström syndrome ( AS ), also called Alström–Hallgren syndrome, [ 1] is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.