Prevalence

The exact prevalence of HNPP is not well known.

Although HNPP is considered a rare disease, with a prevalence of 1 to 5 in 100.000 people, scientific research has shown a higher prevalence.
The highest prevalence until now was defined in a study conducted in a Korean newborn population to determine the prevalence of HNPP. The frequency of HNPP was 1 in 3,769 newborns.

A prior study from the Republic of Ireland and in southwestern Finland reported a prevalence of 0.84 per 100,000 to 16 per 100,000.

(source: https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0779-5: Park, J.E., Noh, SJ., Oh, M. et al. Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population. Orphanet J Rare Dis 13, 40 (2018). https://doi.org/10.1186/s13023-018-0779-5)

It is believed that most people with the disorder don't know they have it because:
- the symptoms are so mild that the person is unaware of a disorder
- the patient was misdiagnosed

Note from Doctor Li (Video conference 22nd of March 2024):
The actual prevalence is probably 1/2500, which is the prevalence of CMT1A (duplication of PMP22).