Sakthiswaari R M D
What is this Disease? Why is it caused? How is it transmitted?
There are various questions that are raised from this disease, But most of the questions are not yet answered. Now let us see what we can generally know about this topic.
This disease is a lysosomal genetic disorder. This lipid storage disorder is caused by the mutated autosomal recessive pattern inherited from the parents that led to the deficiency to create functional beta-hexosaminidase A and B. It is a rare disease.
The symptoms of this disease is can be considered as the severe form of Tay-Sachs Disease. This disorder is transmitted only through the parents to their off springs. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Symptoms
There are various symptoms that are common for both Sandhoff’s Disease and Tay-sachs Disease, Such as:
- Deterioration of the nervous system progressively
- Problems in controlling the movements of the muscles.
- Early blindness
- Seizures.
- Frequent Respiratory infections.
And there are few of the symptoms that are specially seen in this Disease:
- Doll-like facial appearance
- Enlarged liver and spleen
- Increased startled reaction to sound
This disease is commonly Diagnosed by two different methods. But the DNA or Biochemical testing is the commonly used technique to detect this disease. This technique is also known as Enzyme Assay. This testing involves the usage of Serum or Leukocytes, this is varied according to the person who is going to be diagnosed.
The Serum is the commonly used to do this test whereas the Leukocytes is used are administered only for the women during their pregnancy. The Hormones that are secreted during the pregnancy can disturb the the results that are produced with the help of the serum thus Leukocytes are used.
when we see about the treatment for this disease,
There is no such treatment for this disease. this disease can only be treated by the management and using supportive supplementary. The supportive treatment includes proper food habits and checking the respiratory systems regularly because mostly the persons affected by this disease usually struggle from various respiratory diseases.
What is prognosis?
It is known as foreseeing. It is said to be the duration expected for the disease to be developed in one’s body. The prognosis for the person with Sandhoff’s disease is poor. The death usually occurs between the ages of 3 to 4, and the death is caused by the failure of the respiratory system.
As for the conclusion there is no one survived from this disease Since there is no treatment discovered yet. The scientists are learning more about this disease and expects to derive the medicine by closely comparing the Tay-Sachs diseases.
