Autosomal dominant spastic paraplegia type 9A

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ORPHA:447753OMIM:601162G11.4
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8Treatment centers

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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
PollakisuriaHP:0100515Lower limb hypertoniaHP:0006895Abnormality of pain sensationHP:0010832
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 ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant spastic paraplegia type 9A.

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

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

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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 9A.

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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.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.