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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.
Episodic ataxia ( EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). There are seven types recognized but the majority are due to two recognized entities. [ 1] Ataxia can be provoked by psychological stress or startle, or heavy exertion ...
Neurology. 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 ...
Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [ 2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with ...
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 ...
Horizontal optokinetic nystagmus. The optokinetic reflex ( OKR ), also referred to as the optokinetic response, or optokinetic nystagmus (OKN), is a compensatory reflex that supports visual image stabilization. [ 1] The purpose of OKR is to prevent image blur on the retina that would otherwise occur when an animal moves its head or navigates ...
Cortical blindness is the total or partial loss of vision in a normal-appearing eye caused by damage to the brain 's occipital cortex. [ 1] Cortical blindness can be acquired or congenital, and may also be transient in certain instances. [ 2] Acquired cortical blindness is most often caused by loss of blood flow to the occipital cortex from ...
Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF). It is a group of abnormalities of eye movement and pupil dysfunction and is named for Henri Parinaud [ 6 ...