Tay -- Sachs disease Synonyms GM2 gangliosidosis, hexosaminidase A deficiency Cherry - red spot as seen in the retina in Tay -- Sachs disease. The fovea 's center appears bright red because it is surrounded by a whiter than usual area. Specialty Medical genetics Symptoms Initially: Decreased ability to turn over, sit, or crawl Later: Seizures, hearing loss, inability to move Usual onset Three to six months of age Duration Long term Types Infantile, juvenile, late - onset Causes Genetic (autosomal recessive) Diagnostic method Testing blood hexosaminidase A levels, genetic testing Differential diagnosis Sandhoff disease, Leigh syndrome, neuronal ceroid lipofuscinoses Treatment Supportive care, psychosocial support Prognosis Death often occurs in early childhood Frequency Rare in the general population
what type of genetic disorder is tay sachs
autosomal recessive