Autosomal dominant spastic paraplegia type 9B

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Overview

Autosomal dominant spastic paraplegia type 9B (also called SPG9B or hereditary spastic paraplegia type 9B) is a rare inherited neurological condition that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which are all characterized by progressive stiffness and weakness in the legs. In SPG9B, the nerve fibers that carry movement signals from the brain down the spinal cord to the legs gradually break down over time. This leads to increasing leg stiffness (spasticity), muscle weakness, and difficulty walking. Beyond leg problems, SPG9B can also affect other parts of the body. Some people experience problems with their eyes, such as cataracts or abnormal eye movements. Intellectual disability or learning difficulties have been reported in some individuals. The severity of symptoms can vary quite a bit from person to person, even within the same family. There is currently no cure for SPG9B. Treatment focuses on managing symptoms, improving quality of life, and maintaining mobility for as long as possible. Physical therapy, medications to reduce muscle stiffness, and assistive devices like walking aids are the main tools available. Early diagnosis and a good care team can make a meaningful difference in day-to-day life.

Also known as:

Key symptoms:

Progressive leg stiffness (spasticity)Leg muscle weaknessDifficulty walking or changes in walking pattern (gait problems)Balance problemsCataracts (clouding of the eye lens)Abnormal eye movements or eye alignment problemsIntellectual disability or learning difficulties (in some individuals)Bladder control problems (urinary urgency or incontinence)Reduced sensation or numbness in the legsFoot deformities such as high arches (pes cavus)

Clinical phenotype terms (21)— hover any for plain English
Hyperactive patellar reflexHP:0007083Motor polyneuropathyHP:0007178Focal dystoniaHP:0004373
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 Autosomal dominant spastic paraplegia type 9B.

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No actively recruiting trials found for Autosomal dominant spastic paraplegia type 9B at this time.

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No specialists are currently listed for Autosomal dominant spastic paraplegia type 9B.

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 Autosomal dominant spastic paraplegia type 9B.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,What physical therapy program would you recommend to help maintain my walking ability?,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?,Should I see an eye specialist, and how often should my eyes be checked?,Are there any support groups or patient organizations that could connect me with others who have this condition?

Common questions about Autosomal dominant spastic paraplegia type 9B

What is Autosomal dominant spastic paraplegia type 9B?

Autosomal dominant spastic paraplegia type 9B (also called SPG9B or hereditary spastic paraplegia type 9B) is a rare inherited neurological condition that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which are all characterized by progressive stiffness and weakness in the legs. In SPG9B, the nerve fibers that carry movement signals from the brain down the spinal cord to the legs gradually break down over time. This leads to increasing leg stiffness (spasticity), muscle weakness, and difficul

How is Autosomal dominant spastic paraplegia type 9B inherited?

Autosomal dominant spastic paraplegia type 9B follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.