Tay-Sachs disease has 5 mutations may
be discovered during pregnancy and is the
result of a recessive mutation, present only when it inherits mutated genes
from both the mother and the father.
Signs
and symptoms
Children with Tay-Sachs disease appear
to develop normally in early vida.Após this initial period, with distention of
nerve cells with fatty materials, there is a severe deterioration of mental and
physical abilities. The child becomes blind, deaf and unable to swallow.
Muscles begin to atrophy and paralysis occurs. Other neurological symptoms
include dementia, seizures and growing "reflections scare" the
noises. The disease typically becomes fatal in the range of 3 to 5 years.
One form of the disease is much rarer
in patients between 20 and 30 years and is characterized by walking fickle and
progressive neurological deterioration.
One of pathognomonic signs of the
disease is the presence of a stain in the macula is called "cherry-red spot"
due to the fact that it is located in foveola where there are no ganglion
cells, which allows the natural red spectrum of light to be reflected the
underlying choroidal vascular bed, the same happens with the rest of trimácula
which becomes more distressed due to the accumulation of gagliosídeo within the
retinal ganglion cells.
Treatment
Currently there is no treatment for
Tay-Sachs. Anticonvulsant medications can control seizures initially. Other
treatments include supportive nutrition and appropriate hydration and
techniques to keep the airway open. Children may eventually need tube feeding.
Possible treatment, which has been
shown effective in other children held only in Lima - Peru, with stem cells
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