When to see a doctor if a patient has Tay-Sachs syndrome?

Tay-Sachs syndrome is a rare genetic disorder that is passed on from parent to child. It is caused by a lack of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up toxic levels in the brain and spinal cord and affect the function of nerve cells. In the most common and severe form of Tay-Sachs disease, signs and symptoms begin to appear around 3 to 6 months of age. As the disease progresses, growth slows down and muscles begin to weaken. Over time, this can lead to seizures, hallucinations, paralysis, and other serious problems. Children with this form of Tay-Sachs usually live for only a few years. Often, some children have Tay-Sachs syndrome and may be living in their teens. Rarely, some adults have Tay-Sachs syndrome which is usually more severe than the types that start in childhood. If you have a family history of Tay-Sachs disease or if you are a member of a high-risk group and are planning to have children, health care providers strongly recommend genetic testing and genetic counseling. Symptoms: There are three types of Tay-Sachs syndrome: infant, soldier and early / adult. Infantile form: With the most common and severe form, called infantile form, the baby usually begins to show signs and symptoms by about 3 to 6 months of age. Survival usually lasts only a few years. Signs and symbols may include: Excessive panic when a baby hears loud noises, "cherry-red" spots on the eyes, loss of motor skills, including turning, crawling and sitting, Muscle weakness, progression to paralysis, movement problems, fainting, loss of vision and blindness, swallowing problems, loss of mental functions and lack of reaction in the environment, increased head size (progressive macrocephaly). Juvenile form: The new strain of Tay-Sachs disease is less common. Symptoms and signs vary in size and begin in childhood. Survival usually lasts through adolescence. Signs and symbols may include: Behavioral problems, gradual loss of skills and movement control, frequent respiratory infections, loss of vision and speech loss, decreased mental function and reaction and fainting. Last onset/ adult form: This is a rare and very difficult type with signs and symptoms that begin in late childbearing age. The size of the symptoms varies greatly, and this form does not always affect life expectancy. Signs and symptoms are progressive and may include: Muscle weakness, difficulty and loss of communication, shivering and muscle spasms, loss of ability to walk, speech and swallowing problems, mental illness and sometimes the loss of mental functioning.  When to see a doctor? If you or your child has signs or symptoms that might indicate Tay-Sachs' disease, or if you have concerns about your child's growth, arrange a consultation with your healthcare provider. Causes: Tay-Sachs syndrome is a genetic disorder that is passed on from parents to children. Occurs when a child inherits a defect (mutation) in the HEXA gene from both parents. The genetic mutation that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is needed to break down the fatty substance GM2 ganglioside. The formation of fatty substances damages nerve cells in the brain and spinal cord. The severity and early stages of the disease depend on how much of the enzyme is still produced. Risk factors: Because genetic mutations that cause Tay-Sachs syndrome are more common in certain communities, the risk factors for Tay-Sachs' disease include having ancestors from: Eastern and Central European Jewish Communities (Ashkenazi Jews), some French Canadian communities in Quebec, the Cajun community of Louisiana, old Order Amish community in Pennsylvania. Blood tests can be used to identify carriers of the HEXA genetic mutation that causes Tay-Sachs disease. Genetic counseling is recommended following testing.