Tay-Sachs disease and Sandhoff disease are sphingolipidoses, inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.
In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show up at about 3 to 6 months of age. As the disease progresses, development slows and muscles begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.
There are three forms of Tay-Sachs disease: infantile, juvenile and late onset/adult.
In the most common and severe form, called infantile form, an infant typically begins showing signs and symptoms by about 3 to 6 months of age. Survival is usually only a few years. Signs and symptoms can include:
- Exaggerated startle response when the baby hears loud noises
- "Cherry-red" spots in the eyes
- Loss of motor skills, including turning over, crawling and sitting up
- Muscle weakness, progressing to paralysis
- Movement problems
- Vision loss and blindness
- Hearing loss and deafness
The juvenile form of Tay-Sachs disease is less common. Signs and symptoms vary in severity and begin in childhood. Survival is typically into the teen years. Signs and symptoms can include:
- Behavior problems
- Gradual loss of skills and movement control
- Frequent respiratory infections
- Slow loss of vision and speech
- Decline in mental function and responsiveness
LAST ONSET/ADULT FORM
This is a rare and less severe form with signs and symptoms beginning in late childhood to adulthood. Severity of symptoms varies greatly, and this form does not always impact life expectancy. Signs and symptoms progress slowly and can include:
- Muscle weakness
- Clumsiness and loss of coordination
- Tremors and muscle spasms
- Loss of the ability to walk
- Problems speaking and swallowing
- Psychiatric disorders
- Sometimes loss of mental function
Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents.
The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is required to break down the fatty substance GM2 ganglioside. The buildup of fatty substances damages nerve cells in the brain and spinal cord. Severity and age of onset of the disease relates to how much enzyme is still produced.
To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations.
Diagnostic blood test. The blood test checks the levels of hexosaminidase An enzyme in the blood. The levels are low or absent in Tay-Sachs disease.
Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease.
Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease.
Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).
Tay sach disease can be managed homeopathically, as in homoepathy we take the patient as a whole. For remedy selection we need to do proper case history and form a totality of symptoms.
Few remedies are as followed : Tuberculinum, Baryta carb, Sulphur, Iodum, Natrum mur, Lycopdium, Silicea.