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Tay-Sachs disease An inherited condition characterized by the absence of a single lysosomal enzyme called Hex A, which normally breaks down a membrane glycolipid called ganglioside G_M2 that is especially prevalent in nerve cells; usually occurs in children of Ashkenazi (eastern European Jewish) descent and is characterized by seizures and muscle rigidity.
1. Single gene disorders: disorders caused by defects in one particular gene, often with simple and predictable inheritance patterns. 1  Dominant diseases: single gene disorders that occur when an individual has one altered copy of the relevant gene and one healthy copy.2  For example, Huntingtonâs disease. genetic disorder is a disease that is caused by a change, or mutation, in an individualâs DNA sequence.