Overview
Autosomal dominant spastic paraplegia type 9A (also called SPG9A or hereditary spastic paraplegia type 9A) 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 share the common feature of progressive leg stiffness and weakness. In SPG9A, the nerve fibers that run from the brain down the spinal cord gradually break down over time, making it harder for signals to reach the leg muscles properly. The most noticeable symptoms are stiff, tight leg muscles (spasticity) and difficulty walking. Some people also develop problems with their eyes, such as cataracts or abnormal eye movements, and may have mild intellectual difficulties or trouble swallowing. Symptoms can vary quite a bit from person to person, even within the same family. There is currently no cure for SPG9A. Treatment focuses on managing symptoms — for example, physical therapy to maintain mobility, medications to reduce muscle stiffness, and assistive devices like walking aids. With the right support, many people with SPG9A can maintain a good quality of life for many years, though the condition tends to slowly progress over time.
Also known as:
Key symptoms:
Stiff, tight leg muscles (spasticity)Progressive weakness in the legsDifficulty walking or an abnormal walking patternCataracts (clouding of the eye lens)Abnormal eye movements or squintingMild intellectual disability or learning difficultiesTrouble swallowing (dysphagia)Muscle wasting in the hands and feetReduced sensation or numbness in the legsBladder control problemsBalance difficulties
Clinical phenotype terms (34)— 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 9A.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant spastic paraplegia type 9A.
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 9A.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.Which specific mutation in the ALDH18A1 gene do I have, and what does that mean for how my condition might progress?,Should my family members be tested, and if so, who should be tested first?,What physical therapy program do you recommend to help me maintain my walking ability for as long as possible?,Are there any clinical trials or research studies I could join?,What signs of worsening should prompt me to contact you urgently?,Are there any medications I should avoid that could make my spasticity worse?,What specialists should be part of my regular care team, and how often should I see each of them?
Common questions about Autosomal dominant spastic paraplegia type 9A
What is Autosomal dominant spastic paraplegia type 9A?
Autosomal dominant spastic paraplegia type 9A (also called SPG9A or hereditary spastic paraplegia type 9A) 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 share the common feature of progressive leg stiffness and weakness. In SPG9A, the nerve fibers that run from the brain down the spinal cord gradually break down over time, making it harder for signals to reach the leg muscles properly. The most noticeable symptoms are stiff, tight leg mus
How is Autosomal dominant spastic paraplegia type 9A inherited?
Autosomal dominant spastic paraplegia type 9A follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.