NCIt definition : A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the
HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in
accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and
symptoms include progressive deterioration of the mental and physical abilities early
in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.;