Hereditary spastic paraplegia

Title

Other Names:

HSP; Familial spastic paraparesis; FSP

Categories:

Nervous System Diseases

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 bertween 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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Gait disturbance	90%
Hemiplegia/hemiparesis	90%
Hypertonia	90%
Impaired pain sensation	90%
Incoordination	50%
Finger syndactyly	7.5%

Last updated: 9/1/2016

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 inhertiance that is either autosomal dominant, autosomal recessive, or X-linked recessive inheritance
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: 4/25/2016

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

Management Guidelines

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.

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

Do you have updated information on this condition? Let us know.

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 studying or have studied Hereditary spastic paraplegia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

National Ataxia Foundation
2600 Fernbrook Lane
Suite 119
Minneapolis, MN 55447-4752
Telephone: 763-553-0020
Fax: 763-553-0167
E-mail: naf@ataxia.org
Website: http://www.ataxia.org
Spastic Paraplegia Foundation
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 877-773-4483
Fax: 877-773-4483
E-mail: information@sp-foundation.org , davis77@gmail.com
Website: http://www.sp-foundation.org
Synapse: A HSP/PLS Newsletter
E-mail: synapsePLS@comcast.net

Social Networking Websites

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? Send us your suggestions.

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

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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

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.
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.

GARD Answers GARD Answers

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. Submit a new question

My mother has spastic paraplegia. She was diagnosed about five years ago at the Mayo Clinic. She has the complicated form of the disorder because she is confined to a wheelchair and her mind has slowed down. Also, her brother also had this disorder. I know that I have a 50% chance of inheriting this disorder. Since my family members' cases are so severe, does this mean mine probably would be as well? Also, what research is being done to work towards a cure for this? See answer
Can hereditary spastic paraplegia be inherited from grandparent to grandchild (skipping the parent), or is it directly inherited from parent to child only? See answer
I am associated with a hospital in India as a trainee. Recently, we came across a case of Hereditary spastic paraplegia in a patient. We are unaware of the proper genetic testing to be carried out. Is a sample for genetic testing are required? See answer

Have a question? Contact a GARD Information Specialist.

References References

About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2016; http://sp-foundation.org/understanding-pls-hsp/hsp.html.
NINDS Hereditary Spastic Paraplegia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 10, 2014; http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm.
Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2013; 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/.