Hereditary spastic paraplegia

Información en español Title

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:

Nervous System Diseases

Subtypes:

Autosomal recessive spastic paraplegia type 49

This disease is grouped under:

Fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 1

Summary Summary

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

Symptoms Symptoms

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.

Showing of 6 |

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

Showing of 6 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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

Prognosis Prognosis

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 Related Diseases

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 Research

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

The Clinical Research in Amyotrophic Lateral Sclerosis and Related Disorders for Therapeutic Development (CREATE) Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving sporadic and familial forms of amyotrophic lateral sclerosis, frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and progressive muscular atrophy (PMA). The CREATE Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Organizations Organizations

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

Spastic Paraplegia Foundation (SPF)
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 1-877-773-4483
Fax: 1-877-773-4483
E-mail: information@sp-foundation.org
Website: https://sp-foundation.org/

Social Networking Websites

Visit the following Facebook groups related to Hereditary spastic paraplegia:
HSP Research Foundation
Hereditary Spastic Paraplegia's unite
Hereditary Spastic Paraplegia Support Group
Hereditary Spastic Paraplegia Support For UK HSP’rs
Hereditary Spastic Paraplegia Australian Support Group
Spastic Paraplegia Parents/Caregivers
RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Hereditary spastic paraplegia.

Do you know of an organization? We want to hear from you.

Learn More 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

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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References References

About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2019; http://sp-foundation.org/understanding-pls-hsp/hsp.html.
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.
Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2017; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1509/.