Tay Sachs disease is an autosomal recessive genetic disorder which features with progressive deterioration of both, mental and physical abilities. The first symptoms and signs of the disorder develop around six months of age and lethal outcome generally occurs at the age of four.
Tay Sachs Disease - Overview
This genetic disorder develops due to lack of hexosaminidase A, a protein necessary for breaking down ganglioside. This is a chemical found in nerve tissue and its build-up is responsible for serious damage. Improper breaking down of this chemical develops as a consequence of a defective gene on chromosome 15. Tay Sachs can be classified into infantile, juvenile and adult form. The difference between these forms is only related to the age of the patient when first symptoms and signs occur.
Patients suffering from Tay Sachs disease are deaf, blind or have decreased eye contact. Their muscle tone is decreased as well and there is obvious delay in mental and social skills. Furthermore, such children suffer from dementia, loss of motor skills, seizures, paralysis and are prone to irritability.
The disorder is confirmed with the assistance of a complete physical examination, blood tests and DNA testing which reveals genetic mutation responsible for the disorder.
Therapy for Tay Sachs
Unfortunately, there is no cure for Tay Sachs. Gene therapy is currently under investigation and may one day be effective even in these patients. This is why the goal of the treatment is to make patients comfortable and deal with current symptoms and signs.
Treatment options for patients suffering from Tay Sachs disease include respiratory care, assistive devices, medications and physical therapy.
Such patients are prone to accumulation of mucus in the lungs. In order to remove the accumulated mucus they are engaged in chest physiotherapy. This type of physical therapy allows the patient to easily cough up the accumulated mucus and remove it from the respiratory tract. Even parents and other family members are taught how to participate in chest physiotherapy. Since they are prone to respiratory infections patients suffering from Tay Sachs disease require proper monitoring and frequent treatments with antibiotics.
Assistive devices are necessary for prevention of food aspiration. They also help patients take food if they have chewing and swallowing difficulties. Such assistive devices include nasogastric tube and percutaneous esophago-gastrostomy (PEG) tube.
Depending of the symptoms and signs patients develop there is a variety of medications used as a part of symptomatic treatment. Physical therapy is essential for stimulation of muscles and joints. It keeps joints flexible and preserves range of motion. Physical therapy is also necessary to prevent contractures. And finally, support for the family is of major importance when it comes to coping with the disease.