Pure or complex hereditary spastic paraplegia

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Overview

Pure or complex hereditary spastic paraplegia (HSP) is a group of inherited neurological conditions that mainly affect the legs. The name comes from 'spastic,' meaning stiff or tight muscles, and 'paraplegia,' meaning weakness or paralysis of the legs. HSP is also sometimes called familial spastic paraplegia, Strümpell-Lorrain disease, or spastic paraparesis. There are two main types: 'pure' HSP, where leg stiffness and weakness are the main problems, and 'complex' HSP, where other parts of the nervous system are also affected, causing additional symptoms like vision problems, intellectual disability, or balance issues. In HSP, the long nerve fibers that carry signals from the brain down to the legs slowly break down over time. This causes the leg muscles to become increasingly stiff and weak, making walking harder. The condition is caused by changes (mutations) in any one of more than 80 different genes, which is why it can look quite different from person to person. There is currently no cure for HSP, but many treatments can help manage symptoms and improve quality of life. Physical therapy, muscle relaxant medications, and mobility aids are the main tools used today. Most people with pure HSP have a normal life expectancy, though their mobility may gradually decline. Early diagnosis and regular therapy can make a meaningful difference in staying active and independent.

Also known as:

Key symptoms:

Stiff or tight leg muscles (spasticity)Leg weakness, especially when walkingDifficulty walking or an unusual walking style (gait problems)Tripping or falling more often than usualOveractive reflexes in the legsFoot deformities such as high arches or curled toesBladder problems, including urgency or leaking urineMild numbness or tingling in the legs (in some people)Balance and coordination problems (in complex forms)Vision problems or eye movement abnormalities (in complex forms)Intellectual disability or learning difficulties (in complex forms)Seizures (in some complex forms)Muscle wasting in the legs (in some subtypes)Speech or swallowing difficulties (in some complex forms)Fatigue with physical activity

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pure or complex hereditary spastic paraplegia.

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No actively recruiting trials found for Pure or complex hereditary spastic paraplegia at this time.

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No specialists are currently listed for Pure or complex hereditary spastic paraplegia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Pure or complex hereditary spastic paraplegia.

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Community

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Caregiver Resources

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Mental Health Support

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific gene is causing my HSP, and what does that mean for how my condition will progress?,Should other family members be tested, and what are the chances my children could inherit this condition?,What physical therapy program do you recommend, and how often should I attend?,Are there any clinical trials or research studies I might be eligible for?,What medications are available to help with my leg stiffness, and what are the side effects?,At what point should I consider using a walking aid or other mobility device?,Are there any specialists — such as a urologist or orthopedic surgeon — I should also be seeing?

Common questions about Pure or complex hereditary spastic paraplegia

What is Pure or complex hereditary spastic paraplegia?

Pure or complex hereditary spastic paraplegia (HSP) is a group of inherited neurological conditions that mainly affect the legs. The name comes from 'spastic,' meaning stiff or tight muscles, and 'paraplegia,' meaning weakness or paralysis of the legs. HSP is also sometimes called familial spastic paraplegia, Strümpell-Lorrain disease, or spastic paraparesis. There are two main types: 'pure' HSP, where leg stiffness and weakness are the main problems, and 'complex' HSP, where other parts of the nervous system are also affected, causing additional symptoms like vision problems, intellectual dis