Overview
Autosomal recessive spastic paraplegia type 55 (SPG55) is a very rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 55 or SPG55. The disease is caused by mutations in the C12orf65 gene, which plays an important role in how mitochondria (the energy-producing parts of cells) make proteins. When this gene does not work properly, nerve cells and other tissues that need a lot of energy are affected. People with SPG55 typically develop symptoms in childhood, though the age of onset can vary. The hallmark feature is progressive spasticity (stiffness) in the legs, which makes walking increasingly difficult over time. Many affected individuals also experience additional neurological problems, including optic atrophy (damage to the nerve connecting the eye to the brain, leading to vision loss), intellectual disability, and peripheral neuropathy (damage to nerves outside the brain and spinal cord). Some patients may also have short stature and other features. There is currently no cure for SPG55. Treatment focuses on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and assistive devices can help maintain mobility and independence. Medications may be used to reduce muscle stiffness. Because the disease affects multiple body systems, a team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingWeakness in the legsVision loss due to optic nerve damage (optic atrophy)Intellectual disability or learning difficultiesNumbness or tingling in hands and feet (peripheral neuropathy)Muscle wasting in the legsShort statureDifficulty with balance and coordinationSpeech difficultiesAbnormal eye movementsFatigue
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 55.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive spastic paraplegia type 55 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 55.
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 55.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive spastic paraplegia type 55.
Start the conversation →Latest news about Autosomal recessive spastic paraplegia type 55
No recent news articles for Autosomal recessive spastic paraplegia type 55.
Follow this condition to be notified when news becomes available.
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 is the expected progression of symptoms for my child or family member?,How often should we schedule physical therapy and eye exams?,Are there any medications that can help with the leg stiffness?,What educational or developmental support services should we look into?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for carrier status?,What signs should prompt us to seek urgent medical attention?
Common questions about Autosomal recessive spastic paraplegia type 55
What is Autosomal recessive spastic paraplegia type 55?
Autosomal recessive spastic paraplegia type 55 (SPG55) is a very rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is also known as hereditary spastic paraplegia type 55 or SPG55. The disease is caused by mutations in the C12orf65 gene, which plays an important role in how mitochondria (the energy-producing parts of cells) make proteins. When this gene does not work properly, nerve cells and other tissues that need a lot of energy are affected. People with SPG55 typically develop symptoms in childhood
How is Autosomal recessive spastic paraplegia type 55 inherited?
Autosomal recessive spastic paraplegia type 55 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 55 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 55 is childhood. Age of onset can vary across affected individuals.