National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hereditary spastic paraplegia

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Other Names:
HSP; Familial spastic paraparesis; FSP; HSP; Familial spastic paraparesis; FSP; Familial spastic paraplegia; Hereditary spastic paraparesis; SPG; Strümpell-Lorrain disease See More
Categories:
Subtypes:
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] 
Last updated: 4/24/2016
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
Last updated: 4/24/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Impaired pain sensation
Decreased pain sensation
0007328
Paraplegia
Leg paralysis
0010550
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
30%-79% of people have these symptoms
Ataxia 0001251
5%-29% of people have these symptoms
Finger syndactyly 0006101
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Last updated: 7/1/2020
At this point, over 70 different types of HSP have been described.[1] The different patterns of inheritance are autosomal dominant, autosomal recessive, and X-linked recessive.[1][4]
Last updated: 4/24/2016
HSP is diagnosed on the basis of the following:[1][4]
  • Characteristic clinical symptoms of slowly progressive weakness and stiffness in the legs often accompanied by urinary urgency
  • Neurologic examination demonstrating 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
  • Family history shows 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.
Last updated: 10/6/2016

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]
Last updated: 4/25/2016
The prognosis for individuals with HSP varies. Some individuals are very disabled and others have only mild disability. The majority of individuals with uncomplicated HSP have a normal life expectancy.[2]
Last updated: 4/25/2016

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes 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).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hereditary spastic paraplegia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2019; http://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; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
  4. Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1509/.