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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 ...
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 ...
Friedreich's ataxia. 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.
Spinocerebellar ataxia ( SCA) is a progressive, degenerative, [ 1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and ...
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 ...
Pelizaeus – Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 ( PLP1 ), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a ...
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.
Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [ 3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic ...