Hereditary spastic paraplegia (HSP) is a group of genetic, neurodegenerative disorders caused by dysfunction (damage) of the upper motor neurons (nerve cells) that carries signals that control movement from the brain to the spinal cord. This leads to stiffness (spasticity) and weakness mainly in the lower limbs, which can cause difficulty in walking.^1,2 HSP can be pure (uncomplicated) or complex (complicated) depending on the symptoms.² Pure forms of HSP mainly affect the lower limbs; and complex forms of HSP affect other body parts/systems as well. HSP are caused by genetic changes in specific genes, with more than 80 affected genes identified so far. HSP can present during early childhood or later in life.¹

Synonyms: familial spastic paraplegia, HSP, hereditary spastic paraplegia, SPG, Strümpell-Lorrain disease, French settlement disease.^3,4

ORPHA:685 Hereditary spastic paraplegia

ICD-11: 8B44.0 Hereditary spastic paraplegia

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.

The symptoms and severity of HSP can vary widely between individuals and between different types of HSP.

Some common signs and symptoms include:^1,2

• lower limbs stiffness (spasticity) and weakness that worsens over time
• difficulty walking
• gait (walking pattern) that may worsen over time
• reduced ability in lower limbs to feel sensation when touching things that vibrate (reduction of vibration sensation)
• feelings of sudden need to pee (urinary urgency) or uncontrollable leaking (incontinence)
• numbness in lower body parts

For individuals with complex forms of HSP, the condition progressively affects the brain cerebellum and the peripheral nerves, leading to additional symptoms.⁵ These may include cerebellar ataxia, dysarthria (difficulty speaking), extrapyramidal disorder (a type of movement disorder), intellectual disability, dementia, epilepsy, retinopathy (damage to the retina, which is the tissue at the back of the eyes), deafness and neuropathy (nerve damage).^2,5

Please speak to your medical team to learn more about the symptoms and complications of HSP.

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.

HSP are genetic conditions. They are caused by disease-causing genetic changes (variants) in specific genes that are often important for development, maintenance and regeneration of nerve cells (neurons) that carry signals from the brain to the spinal cord. These signals control movements and muscles in the lower limbs.⁶

More than 80 genes have been linked to HSP and there may be other genes that have not yet been identified.³ HSP can be categorised into different subtypes depending on the affected gene and can be pure or complex.²

For most individuals with HSP, their genetic variants are passed down (inherited) from their parents in autosomal dominant (most common), autosomal recessive, X-linked recessive, or maternally inherited in mitochondrial DNA.^1,2,5 In some cases, HSP can occur randomly (de novo) prior to birth.¹

More information on these inheritance patterns can be found at:

• Centre for Genetics Education: Autosomal dominant inheritance
• Centre for Genetics Education: Autosomal recessive inheritance
• Centre for Genetics Education: X-linked inheritance
• Centre for Genetics Education: Mitochondrial 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

Diagnosis of HSP may be made based on physical examination, medical and family history, magnetic resonance imaging (MRI) scans of the brain and spine, and genetic testing to identify the causal gene.^1,3

A differential diagnosis can rule out other conditions that have similar symptoms, such as multiple sclerosis, spinal vascular abnormality, vitamin B12 deficiency, HTLVI infection, primary lateral sclerosis, diplegic cerebral palsy, metabolic genetic diseases (dopa-responsive dystonia, leukodystrophies, brain metal accumulation disorders) and leukodystrophies.³

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

There is currently no curative treatment for HPS.¹ Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include physiotherapy, medication to relieve leg stiffness such as muscle relaxants and botulinum (Botox) injections, orthotics to manage high arch feet such as ankle-foot orthoses and heel raises, use of mobility assistive equipment such as canes, walkers or wheelchairs.^1,2,5

Individuals with HSPs may be evaluated and monitored for bladder function, dysphagia, dysarthria, scoliosis, bowel function, mobility and treated accordingly.¹

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.

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.

Healthcare professionals involved in the treatment of HSP may include general practitioners (GP), gastroenterologists, geneticists, neurologists, occupational therapists, orthopaedic surgeons, physiotherapists, urologists and others.^1,4 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for HSP in Australia. If you know of any relevant 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:

• OrphanetAnesthesia: Anaesthesia recommendations for Hereditary spastic paraplegia; last modified in 2019.
• Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia developed by clinicians in Spain, includes recommendations for diagnosis and treatment; published in 2022.

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.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

HSP Research Foundation

Website: https://hspersunite.org.au/

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.

HSP 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, including families and carers, 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 people 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 HSP can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Hereditary spastic paraplegia
• National Organization for Rare Disorders (NORD): Hereditary spastic paraplegia

GeneReviews®: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview

Orphanet: Hereditary spastic paraplegia

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

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.