Tay Sachs....?

Question

Is this disease cause by a dominant allele , recessive alleles, extra chromosome or is is sex linked?
What does it do the the affected person?

Answer 1

I think it's recessive alleles. Both parents must be a carrier.
Infants with Tay-Sachs disease appear to develop normally for the first six months of life. Then, as nerve cells become distended with gangliosides, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Death usually occurs before the age of 4 or 5.
Extremely rare, Juvenile Tay-Sachs disease usually presents itself in children between 2 and 10 years of age. They develop cognitive, motor, speech difficulties (dysarthria), swallowing difficulties (dysphagia), unsteadiness of gait (ataxia), and spasticity. Patients with Juvenile TSD usually die between 5–15 years.
A rare form of the disorder, known as Adult Onset Tay-Sachs disease or Late Onset Tay-Sachs disease (LOTS), occurs in patients in their 20s and early 30s. LOTS is frequently misdiagnosed, and is usually non-fatal. It is characterized by unsteadiness of gait and progressive neurological deterioration. Symptoms of LOTS, which present in adolescence or early adulthood, include speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, particularly schizophrenic-like psychosis. Patients with LOTS frequently become full-time wheelchair users in adulthood, but many live full adult lives if psychiatric and physical difficulties are accommodated. Psychiatric symptoms and seizures can be controlled with medications.

Answer 2

I agree. My worry is having a fetus that's now not going to be healthful in a significant manner however not understanding until it is too late to abort. With so many miscarriages it can be apparent it's hard to make a youngster, even for God. That extends to these occasions too. I've identified a loved ones who had two tay-saches toddlers. It was once coronary heart breaking as they grew & failed to do well. I in my opinion suppose the soul comes into the fetus typically within the 2nd or third trimester & it varies from child to little one. Again, making a baby is tough, even this section has kind & takes effort for the soul to find it is place. This is not in contradiction with Jewish belief, that does not have a fixed answer to the question of when the soul enters the body considering it is viewed "unknowable". Whilst abortion isn't stimulated, if it'll endanger the health of the mummy together with psychological, it's permitted. I'm sorry on your loss. I hope you've got a very healthful being pregnant soon. ==================== dh_00720 Epislepsy & Tay Sachs don't evaluate. There were consistently slight instances as possible & they grew to maturity & it can be no longer more commonly painful. Treatment could also be located for Tay Sachs as we do gene research, but until then you can predict.

Answer 3

Autosomal recessive

Tay Sachs is a very rare genetic disorder where there is an insufficient production of hexosaminidase A (HEXA). It causes fatty material to build up in nerve cells, predominantly in the brain.

This in turn leads to impaired function of the nerve cells, difficulties with and finally inability of:
walking
talking
swallowing
coordinating movements of arms