GM2 Gangliosidosis. Adult onset mild type. Hexosaminidase A deficiency.
Incidence
Is inherited as an autosomal recessive trait. It is caused by marked deficiency of hexosaminidase A. Most patients has been Ashkenazic Jewish ancestry.
Clinical Characteristics
The symptomatology in this condition is that of the chronic form of disease, which onset is usually insidious and progression is slow. Some patients may have only mild neurological symptoms and may live to an advanced age. They usually show moderate difficulty with coordinating hand movements and in full movement of the eyes. Is inherited as an autosomal recessive trait. It is caused by marked deficiency of hexosaminidase A. Most patients has been Ashkenazic Jewish ancestry.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F.