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
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant spastic paraplegia type 9B.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant spastic paraplegia type 9B.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal dominant spastic paraplegia type 9B.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.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.