Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition

The genetic defect responsible for hereditary neuropathy with liability to pressure palsy (HNPP) is located in the same segment that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A). HNPP had been presumed to be rare until an epidemiological study found a much higher incidence than was expected; the researchers suggested that HNPP was underrecognized because many affected persons have mild symptoms. We believe that another reason for underdiagnosis of HNPP is the marked phenotypic variability of the disease. We recommend, therefore, that DNA analysis for the 17p11.2 deletion be considered in patients with unexplained demyelinating neuropathy regardless of family history.