Hereditary spastic paraplegia
Other Names for this Disease
- Familial spastic paraparesis
- Hereditary spastic paraplegia - autosomal dominant inheritance
- Hereditary spastic paraplegia - autosomal recessive inheritance
- Hereditary spastic paraplegia – maternal inheritance
- Hereditary spastic paraplegia - X-linked inheritance
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Your QuestionI 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?
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Questions on this page
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. 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. 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.
Last updated: 4/24/2016
The hallmark feature of hereditary spastic paraplegia is progressive weakness and spasticity (stiffness) of the legs. Symptoms typically develop bertween the second and fourth decades (although earlier and later presentation has been described). 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:
Last updated: 4/24/2016
- 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
Research laboratories that are offering molecular genetic testing for HSP are listed in The Genetic Testing Registry (GTR). GTR is a centralized online resource for information about genetic tests. 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.
Last updated: 7/5/2013
- 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/.