tay sachs disease

In AD, many of these clumps form, disrupting the work of neurons. This By: Víctor Ramos Almirón

Is a rare disease that affects the central nervous system and is of hereditary character, autosomal and recessive, that causes severe collateral effects, both physical and mental.

What is TSD?

people of French-Canadian/Cajun heritage.

Only 1 in 6400 babies develop Tay Sachs. Only 1 in 27 Ashkenazi Jews develop the fatal disease.

The Population with Tay Sachs

• Now also prevalent in non-Jewish populations, including people of French-Canadian/Cajun heritage.

A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there's a:

Causes of Tay-Sachs

The disease is caused by mutations on chromosome 15 in the HEX A gene, which produces a lack of hexosaminidase A.

Without this enzyme, gangliosides, particularly ganglioside GM2, increases and degenerates central nervous system.

Signs or SymptomsTay–Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms. Infantile Juvenile Adult/Late Onset

3 to 10 months  two and 10 years 20 and 30 years Extremely rare   usually non-fatal

Signs or Symptoms  -Loss of learned skills-Loss of smile, crawl, grab.-Blindness, Deafness, Paralysis.-Dementia-Unable to swallow-Muscle atrophy-Cherry-red spot in the back of their eyes  

-TreatmentThere is no treatment for Tay-Sachs disease, nor there is any way to prevent or reduce the progression of this disorder.

Lactante of a year of age, masculine sex, half-caste, natural race of Lima with time of disease of 8 months that according to the mother begins with "frights"  (stretches arms and legs to any noise), progressive loss of muscular force and impede to support the head and the thorax.  At 8 months old loss of vision accompanied by progressive spasticity from the low members and recurrent bronchitis.

CLINICAL CASE

Examination

Fund of eye: presence of bilateral pallor of papila and cherry-red spot in the macula.

Biochemical profile: 

Total Hexosaminidase 125.0 nM, Hexosaminidase A: 0%. 

Other blood tests without significant alterations.

 The patient evolved with physical and neurological progressive deterioration, being diagnosed with TSD

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