The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional β-hexosaminidase A present in the body. [ncbi.nlm.nih.gov]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent the development and progression of the disease. [rarediseases.org]

• Feeding Difficulties

  Because of the potential for feeding difficulties, infants should be monitored for nutritional status and proper hydration. Nutritional support and supplementation may be necessary. [rarediseases.org]

• Dysphagia

  As the disease progresses, children with Tay-Sachs disease experience involuntary muscle twitches (myoclonic jerks), seizures, difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability. [medlineplus.gov]

  Difficulties swallowing (dysphagia) may emerge late in the disease. Some affected individuals experience acute psychiatric manifestations (mania, acute depression or psychosis) that may require emergency psychiatric care. [rarediseases.org]

• Macrocephaly

  […] sitting up Muscle weakness, progressing to paralysis Movement problems Seizures Vision loss and blindness Hearing loss and deafness Problems swallowing Loss of mental functions and a lack of response to surroundings Growth in head size (progressive macrocephaly [mayoclinic.org]

• Macula

  There may be a stain cherry red in the macula. Muscle weakness progresses and ends in paralysis. This degenerative disorder ends in a stage of decerebration with fatal outcome during childhood. [tellmegen.com]

  This ophthalmological finding emerges from abnormal accumulation of pale undigested material in the macula which contrasts to the thin foveal transparent background exposing the normal rich choroidal vasculature. [rarediseases.org]

• Psychomotor Retardation

  Psychomotor retardation appears beyond 8 months with hypotonia, amaurosis and megalencephaly. There may be a stain cherry red in the macula. Muscle weakness progresses and ends in paralysis. [tellmegen.com]

• Ataxia

  In the juvenile form (type 2), the onset of the disease is between 2 and 6 years with ataxia, behavioral disorders and a progressive loss of intellectual abilities that lead to a state of descerebración and death around 15 year old. [tellmegen.com]

  Characteristic features of juvenile or late-onset Tay-Saches disease include muscle weakness, loss of muscle coordination (ataxia), speech problems, and psychiatric symptoms. [medlineplus.gov]

  This occurs because affected children have issues controlling their body’s movements (ataxia). Children tend to experience a progressive loss of speech, life skills and intellectual abilities. [rarediseases.org]

• Slurred Speech

  Patients may exhibit tremors and progressive slurred speech (dysarthria). Difficulties swallowing (dysphagia) may emerge late in the disease. [rarediseases.org]

• Dysarthria

  Patients may exhibit tremors and progressive slurred speech (dysarthria). Difficulties swallowing (dysphagia) may emerge late in the disease. [rarediseases.org]

Treatment of the late onset form of Tay-Sachs with a ganglioside synthesis inhibitor shows promise. [ncbi.nlm.nih.gov]

There is no effective treatment for Tay-Sachs disease but can be administered AEDs. It is currently investigating a treatment for forms of slow progression aimed at inhibiting the synthesis of gangliosides. [tellmegen.com]

[…] reload=timezone Standard Therapies Treatment There is no approved treatment for Tay-Sachs disease. Treatment is directed toward the individual symptom management. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Parents who receive a diagnosis of Tay-Sachs in their child will require a great deal of emotional, and medical support, in terms of understanding and coping with their child’s prognosis. Genetic counselors are trained to provide this support. [fdna.health]

Occasionally, the insertion of a feeding tube may be required to help prevent food, liquid or other foreign material from accidently going into the lungs (aspiration). [rarediseases.org]