Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic neurological condition. It affects peripheral nerves which carry signals between the brain, spinal cord and the rest of the body. Any nerves can be affected, and the most commonly affected nerves are in the wrists, elbows and knees. Individuals with HNPP can have repeated episodes of numbness, tingling, weakness or loss of muscle function (palsy) in the area supplied by the affected nerve. These episodes may last from minutes to months, and are commonly triggered by compression or irritation to the affected nerves. Symptoms and severity can vary between individuals, and some individuals have no symptoms. 

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.  

Synonyms: HNPP, tomaculous neuropathy, current pressure-sensitive neuropathy, heterozygous microdeletion 17p11.2p12, potato-grubbing palsy, tulip-bulb digger’s palsy, familial recurrent polyneuropathy, hereditary liability to pressure palsies. 

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:640 Hereditary neuropathy with liability to pressure palsies 

ICD-11: 8C20.Y Other specified hereditary motor and sensory neuropathy 

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition. It is caused by disease-causing genetic changes (variants) in the PMP22 gene on chromosome 17. PMP22 protein is found in myelin (a protective layer that wraps around nerve cells) in the peripheral nervous system.

All individuals have two copies (alleles) of the PMP22 gene – one on each chromosome inherited from each parent. HNPP is an autosomal dominant condition, which means that having a genetic variant in just one of the PMP22 gene copies can result in this condition.

For most individuals with HNPP, the genetic variant is inherited from a parent who also has the condition. In some individuals, the genetic variant occurs randomly (de novo) prior to birth.

The genetic variant in the PMP22 gene can be passed on to the next generation. If a parent has the autosomal dominant gene variant, there is 50% chance that they will pass that genetic variant to each of their children. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of individuals with Hereditary neuropathy with liability to pressure palsies (HNPP) may include general practitioners (GP), geneticists, neurologists, physiotherapists, occupational therapists, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

If you know of any relevant clinical care guidelines, please let us know via the  Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies developed by neurologists from France, published in 2000.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

We are not aware of any organisations for HNPP in Australia. If you are aware of any Australian organisation, please let us know via the Contribute page.

International Organisation:

Foundation for Peripheral Neuropathy (United States of America) 
Website: https://www.foundationforpn.org/ 

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Hereditary neuropathy with liability to pressure palsies (HNPP) varies between individuals, and each person’s experience is unique.  

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Hereditary neuropathy with liability to pressure palsies (HNPP) can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Hereditary neuropathy with liability to pressure palsies (HNPP)
• National Organization for Rare Disorders (NORD): Hereditary neuropathy with liability to pressure palsies (HNPP)
• MedlinePlus Genetics: Hereditary neuropathy with liability to pressure palsies

GeneReviews®: Hereditary neuropathy with liability to pressure palsies (HNPP)

Online Mendelian Inheritance in Man, OMIM®: #162500 Neuropathy, hereditary, with liability to Pressure Palsies; HNPP

Orphanet: Hereditary neuropathy with liability to pressure palsies (HNPP)

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.