Overview
Autosomal recessive spastic paraplegia type 69 (SPG69) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 69 or SPG69. The disease is caused by mutations in the RAB3GAP2 gene, which plays an important role in how nerve cells function and communicate. People with SPG69 typically develop stiffness (spasticity) in the lower limbs that gradually worsens over time, making walking increasingly difficult. In addition to leg stiffness, affected individuals may experience intellectual disability, eye abnormalities such as cataracts or small eyes (microphthalmia), and problems with coordination. Some patients may also have features that overlap with Warburg Micro syndrome, a related condition caused by mutations in the same gene, which can include underdevelopment of the brain and genital abnormalities. There is currently no cure for SPG69. Treatment focuses on managing symptoms and improving quality of life. Physical therapy, medications to reduce muscle stiffness (such as baclofen or tizanidine), and assistive devices for mobility are the main approaches. Occupational therapy and special education support may also be helpful for individuals with intellectual disability. Because this condition is so rare, management is best guided by a team of specialists familiar with hereditary spastic paraplegias.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingIntellectual disabilityCataracts or other eye problemsAbnormally small eyesDelayed motor developmentPoor coordinationMuscle weakness in the legsAbnormal reflexesUnderdevelopment of parts of the brainSpeech and language delaysGenital abnormalities in some cases
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 69.
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Specialists
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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 recessive spastic paraplegia type 69.
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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.What is the expected progression of my child's symptoms over time?,What therapies are most important to start right away?,Are there any clinical trials or research studies we could participate in?,How often should we schedule eye exams and neurological check-ups?,What medications can help with leg stiffness, and what are the side effects?,Should other family members be tested for carrier status?,What educational and developmental support services should we look into?
Common questions about Autosomal recessive spastic paraplegia type 69
What is Autosomal recessive spastic paraplegia type 69?
Autosomal recessive spastic paraplegia type 69 (SPG69) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 69 or SPG69. The disease is caused by mutations in the RAB3GAP2 gene, which plays an important role in how nerve cells function and communicate. People with SPG69 typically develop stiffness (spasticity) in the lower limbs that gradually worsens over time, making walking increasingly difficult. In addition to leg stiffness, affected individ
How is Autosomal recessive spastic paraplegia type 69 inherited?
Autosomal recessive spastic paraplegia type 69 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive spastic paraplegia type 69 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 69 is infantile. Age of onset can vary across affected individuals.