Pure or complex autosomal dominant spastic paraplegia

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Overview

Pure or complex autosomal dominant spastic paraplegia (also called autosomal dominant hereditary spastic paraplegia, or AD-HSP) is a group of inherited neurological conditions that primarily affect the nerves controlling leg movement. The hallmark feature is progressive stiffness and weakness in the legs, caused by gradual damage to the longest nerve fibers in the spinal cord. In the "pure" form, symptoms are mainly limited to leg stiffness (spasticity), weakness, and sometimes bladder problems. In the "complex" form, additional neurological features may be present, such as problems with balance, vision, hearing, thinking, or sensation in the hands and feet. Symptoms usually develop gradually and can begin at any age, though many people notice difficulty walking in early adulthood or middle age. The rate of progression varies widely — some people remain mobile for decades, while others may eventually need a wheelchair. Because many different genes can cause this condition, the severity and specific symptoms can differ greatly even within the same family. There is currently no cure for autosomal dominant spastic paraplegia. Treatment focuses on managing symptoms and maintaining mobility. Physical therapy, stretching exercises, and medications to reduce muscle stiffness (such as baclofen or tizanidine) are the main approaches. Assistive devices like braces, walkers, or wheelchairs may be needed as the condition progresses. Research into new therapies is ongoing.

Also known as:

Key symptoms:

Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessFrequent tripping or fallingMuscle spasms or cramps in the legsBladder urgency or difficulty controlling urinationBalance problemsNumbness or tingling in the feetFoot deformities such as high archesFatigue during walkingDifficulty with fine motor tasks in complex formsProblems with memory or thinking in complex formsVision changes in some complex formsHearing loss in some complex forms

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 autosomal dominant spastic paraplegia.

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

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No specialists are currently listed for Pure or complex autosomal dominant 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 autosomal dominant 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 mutation is causing my condition, and what does that mean for my prognosis?,Is my form pure or complex, and what additional symptoms should I watch for?,What physical therapy program do you recommend to maintain my mobility?,What medications can help with my leg stiffness, and what are the side effects?,Should my family members be tested for this condition?,Are there any clinical trials or research studies I could participate in?,What assistive devices or home modifications would you recommend at this stage?

Common questions about Pure or complex autosomal dominant spastic paraplegia

What is Pure or complex autosomal dominant spastic paraplegia?

Pure or complex autosomal dominant spastic paraplegia (also called autosomal dominant hereditary spastic paraplegia, or AD-HSP) is a group of inherited neurological conditions that primarily affect the nerves controlling leg movement. The hallmark feature is progressive stiffness and weakness in the legs, caused by gradual damage to the longest nerve fibers in the spinal cord. In the "pure" form, symptoms are mainly limited to leg stiffness (spasticity), weakness, and sometimes bladder problems. In the "complex" form, additional neurological features may be present, such as problems with balan

How is Pure or complex autosomal dominant spastic paraplegia inherited?

Pure or complex autosomal dominant spastic paraplegia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.