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Babies with this condition usually appear normal at birth, but start showing symptoms when they are just 6 months old, these symptoms are (but are not limited to): hypotonia, developmental delays, seizures, bobbing of the head, abnormal twitching and movement of the muscles, and loss of braincells from the cerebellum, retinal degeneration, involuntary rapid movement of the eyes, and strabismus.
Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. [1] There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration , and alcoholic or nutritional cerebellar degeneration. [ 2 ]
Retinopathy is diagnosed by an ophthalmologist or an optometrist during eye examination. The clinician will need to examine the retina, at the back of the eye, to make this diagnosis. There are several ways to examine the retina. The clinician can directly view the retina by looking through the pupil with a light.
The symptoms of vestibulocerebellar syndrome vary among patients but are typically a unique combination of ocular abnormalities including nystagmus, poor or absent smooth pursuit (ability of the eyes to follow a moving object), strabismus (misalignment of the eyes), diplopia (double vision), oscillopsia (the sensation that stationary objects in the visual field are oscillating) and abnormal ...
A–T is one of several DNA repair disorders that result in neurological abnormalities or degeneration. Arguably some of the most devastating symptoms of A–T are a result of progressive cerebellar degeneration, characterized by the loss of Purkinje cells and, to a lesser extent, granule cells (located exclusively in the cerebellum). [12]
(Spinocerebellar degeneration is a rare inherited neurological disorder of the central nervous system characterized by the slow degeneration of certain areas of the brain. There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.) [citation needed]
Treatment Unknown Pontocerebellar hypoplasia ( PCH ) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons ). [ 1 ]
Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. . Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood
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