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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
Age of onset
All ages
ICD-10
G11.4
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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;
Categories
Nervous System Diseases
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
Symptoms
- 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:
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 |
0006101 |
Diagnosis
- 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 , orX-linked recessive - Exclusion of other disorders that cause
spasticity and weakness in the legs - Identification of a disease-causing
mutation in an HSP-causinggene ; 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.
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.
|
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.
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.
References
- About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2019; https://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; https://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
- Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1509/.
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