TAY-SACHS

A DEADLY DISORDER

 

Other names used for this disease are:

• Hexosaminidase A deficiency
• Sphingolipidosis
• TSD
• Lysosomal Storage Disorder 

 

What is it?

 

• Tay-Sachs is a rare, inherited disorder

 

• The condition is caused by lack of the enzyme Hex A

 

•  Hex A provides 'coaching' for making a piece of an enzyme that is called beta-hexosaminidase A

 

• This enzyme has a very important role in the function of the brain and the spinal cord 

 

• It is in lysosomes, these are structures in the cell that breaks down the toxic substances

 

• Lysosomes, contains beta-hexosaminidase A, which provides help with breaking down a fat filled substance called GM2 ganglioside

 

• Tay-Sachs prevents the job of beta-hexosaminidase A, which then stops the enzyme from breaking down GM2 ganglioside

 

• This substance then builds up to toxic levels, primarily in the neurons in the brain and spinal cord

 

• This leads to destruction of these neurons, which causes Tay-Sachs disease

 

• Children with Tay-Sachs disorder seem to grow normally for the first few months of life

 

• As the nerve cells become swelled from pressure on the inside from fatty material, and eventually destroyed, their mental and physical abilities begin to deteriorate

 

•  The child may become(s):
• blind
• deaf
• unable to swallow
• muscles begin to waste away
• paralysis can occur
• neurological symptoms: dementia, seizures, increased startle reflex to noise
• cannot turn over, crawl or sit

 

• Another symptom may be something called the cherry-red spot, this is an eye abnormality which can be discovered with a n eye examination

 

• There are blood tests that can be done to determine wether or not you carry this disease 

 

 

Is there a cure?

 

• Anticonvulsant is a medicine that sometimes controls the seizures

 

• Some medications can be used to help with other symptoms

 

• Most treatment would just consist of proper nutrition and hydration techniques to keep the airways open

 

• Although doctors try their best to find a cure for Tay-Sachs, children with this disease almost always die before the age of 4

 

• They die mostly because of the recurring infection

 

• Gene Therapy: in a nutshell gene therapy is alterations made in defected cells to fix genetic disorders

 

•  Gene Therapy has not yet been used in the cure for Tay-Sachs disorder, but I have looked around and there are many websites on Tay-Sachs that are talking about using the idea of gene therapy to help eliminate this disorder

 

• Like this one for example:

 

• http://019221f.netsolhost.com/gt.shtml  

 

 

Who has a higher chance of having Tay-Sachs?

 

• It is actually very rare in the general population

 

• Jews of central and eastern European descent are at risk

 

• Cajun heritage

 

• French/Canadian heritage

 

• Some carry Tay-Sachs, but do not develop the full disease

 

 

How is it inherited?

 

• This disorder is inherited in an autosomal recessive pattern, this basically means that two of the 'diseased' genes both have to be present in order for the offspring to have the disorder

 

Issues?

 

• There is one specific issue with this disorder and that is that it is not a very well known disorder

 

• It does not go very noticed therefore there are not many people researching cures to this very problematic disorder

 

• This is a problem because young children are dying from this, and families are loosing their children

 

• Although there are very few young children suffering from it does not mean it cannot be ignored

 

 

An infant can only have Tay-Sachs disease if both parents are carriers of the gene:

x	T	t
T	TT	Tt
T	TT	tt

 

• 25% chance they will not be a carrier
• 25% chance they will have the disease
• 50% chance they will be a carrier, but not have the disease

 

 

 

These video's really spoke to me and made me really sad to see. I think that this disorder is very sorrowful because there is basically nothing you can do about it once you have it. Since this disorder is very rare, not many people know about it therefore it needs to become more noticed so doctors can do more research and possibly find an end to it. Because once your child is diagnosed with it all you can do is basically watch them die. Which is very sad.

 

Bibliography:

 

http://ghr.nlm.nih.gov/condition/tay-sachs-disease

 

http://www.nlm.nih.gov/medlineplus/taysachsdisease.html

 

http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

 

http://kidshealth.org/parent/medical/genetic/tay_sachs.html