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).

The prevalence of hereditary neuromuscular disorders in Northern Norway
Müller KI, Ghelue MV, Lund I, Jonsrud C, Arntzen KA. The prevalence of hereditary neuromuscular disorders in Northern Norway. Brain Behav. 2021 Jan;11(1):e01948. doi: 10.1002/brb3.1948. Epub 2020 Nov 13. PMID: 33185984; PMCID: PMC7821572.
11/2020
https://pmc.ncbi.nlm.nih.gov/articles/PMC7821572/