Hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis, refers to a group of inherited disorders that involves weakness and spasticity, which is stiffness of the legs. These symptoms get worse over time. Early in the disease, there may be mild trouble walking and stiffness. These symptoms typically get worse slowly until a cane, walker, or wheelchair is needed.

The progressive lower limb spasticity and weakness are the main features of “pure” HSP. Complicated forms of HSP may include other symptoms:

• Impaired vision due to cataracts and problems with the optic nerve and retina of the eye
• Ataxia, which is a lack of muscle coordination
• Epilepsy
• Cognitive impairment
• Peripheral neuropathy, damage to the nerves outside of the brain and spinal cord
• Deafness

HSP is diagnosed mainly by neurological exam and testing to rule out other disorders.

Several genetic mutations have been identified that are linked to various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, but they may be carriers of the abnormal gene. Depending on the HSP gene involved, symptoms may begin in childhood or adulthood.

There are no treatments to prevent, slow, or reverse HSP. Treatments such as muscle relaxers can sometimes relieve spasticity. Regular physical therapy is important for muscle strength and to keep range of motion.

The outlook for people with HSP varies. Some people are significantly limited and others have only mild disability. Most people with pure HSP have a normal life expectancy.

How can I or my loved one help improve care for people with hereditary spastic paraplegia?

Consider participating in a clinical trial so clinicians and scientists can learn more about HSP and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with HSP at Clinicaltrials.gov.

Where can I find more information about hereditary spastic paraplegia?

The following organizations and resources can help individuals, families, friends, and caregivers of people living with HSP:

Genetic Alliance
Phone: 202-966-5557 or 800-336-4363

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

Spastic Paraplegia Foundation
Phone: 877-773-4483

Content source: https://www.ninds.nih.gov/health-information/disorders/hereditary-spastic-paraplegia Accessed June 23, 2023.

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