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Disease Profile

Hereditary spastic paraplegia

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

All ages





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

HSP; Familial spastic paraparesis; FSP;


Nervous System Diseases


Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen.[1] If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur.[1][2] The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.[2][3]


The hallmark feature of hereditary spastic paraplegia is progressive weakness and spasticity (stiffness) of the legs.[1][2] Symptoms typically develop between the second and fourth decades (although earlier and later presentation has been described).[1] Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually, individuals with HSP may require the assistance of a cane, walker, or wheelchair. In some cases, additional symptoms may occur. These can include:[1][2]

  • impaired vision
  • ataxia
  • urinary urgency and frequency
  • hyperactive reflexes
  • Babinski's sign 
  • difficulty with balance
  • epilepsy 
  • cognitive impairment
  • peripheral neuropathy
  • deafness

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

Impaired pain sensation
Decreased pain sensation
Leg paralysis
Involuntary muscle stiffness, contraction, or spasm
30%-79% of people have these symptoms
5%-29% of people have these symptoms
Finger syndactyly


HSP is diagnosed on the basis of the following:[1][4]

  • Characteristic clinical symptoms /Subsection level=4/title #1name(*[2]) = 'paragraph'Subsection level=4/Paragraph #1of slowly progressive weakness and stiffness in the legs often accompanied by urinary urgency/Subsection level=4/Paragraph #1
  • Neurologic examination /Subsection level=4/title #1name(*[2]) = 'paragraph'Subsection level=4/Paragraph #1demonstrating damage to the nerve paths connecting the spinal cord and the brain (corticospinal tract), such as spastic weakness, exaggerated reflexes, typically associated with bilateral extensor plantar responses; often accompanied by a mild inability to sense vibration in the lower part of the legs and muscle changes of the urinary bladder/Subsection level=4/Paragraph #1
  • Family history /Subsection level=4/title #1name(*[2]) = 'paragraph'Subsection level=4/Paragraph #1shows a pattern of inheritance that is either autosomal dominant, autosomal recessive, or X-linked recessive
  • Exclusion of other disorders that cause spasticity and weakness in the legs
  • Identification of a disease-causing mutation in an HSP-causing gene; such testing is increasingly available and can confirm the diagnosis of HSP.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    There are no specific treatments to prevent, slow, or reverse HSP. Treatment is symptomatic and supportive. Medications may be considered for spasticity and urinary urgency. Regular physical therapy is important for muscle strength and to preserve range of motion.[1][4][2]


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Hereditary spastic paraplegia in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary spastic paraplegia. Click on the link to view a sample search on this topic.


            1. About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2019; https://sp-foundation.org/understanding-pls-hsp/hsp.html.
            2. NINDS Hereditary Spastic Paraplegia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 15, 2018; https://www.ninds.nih.gov/disorders/all-disorders/hereditary-spastic-paraplegia-information-page.
            3. Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
            4. Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1509/.

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