Overview
Autosomal recessive spastic paraplegia type 59 (SPG59) 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 59 or SPG59. This condition is caused by changes (mutations) in the USP8 gene (though more commonly attributed to mutations in the gene associated with this specific SPG type). The hallmark feature is spasticity, which means the muscles in the legs become increasingly tight and difficult to control, making walking progressively harder over time. SPG59 typically begins in early childhood and may be accompanied by additional neurological problems beyond leg stiffness. These can include intellectual disability, speech difficulties, and sometimes problems with coordination. Because it is autosomal recessive, a child must inherit a faulty copy of the gene from both parents to develop the condition. There is currently no cure for SPG59. 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 like braces or walkers are commonly used. Occupational therapy and speech therapy may also be helpful depending on the individual's needs. Research into hereditary spastic paraplegias is ongoing, and families are encouraged to connect with specialists who understand these rare conditions.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingMuscle weakness in the legsIntellectual disabilitySpeech and language delaysPoor coordination or balance problemsExaggerated reflexes in the legsToe walking or abnormal gaitDelayed motor milestonesPossible thin corpus callosum on brain imagingLearning difficulties
Clinical phenotype terms (11)— 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 59.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive spastic paraplegia type 59 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 59.
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 59.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive spastic paraplegia type 59.
Start the conversation →Latest news about Autosomal recessive spastic paraplegia type 59
No recent news articles for Autosomal recessive spastic paraplegia type 59.
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 rate of progression for my child's specific case?,What physical therapy program would be most beneficial, and how often should sessions occur?,Are there any medications that could help reduce the leg stiffness?,Should we consider genetic counseling for our family, and what does carrier testing involve?,Are there any clinical trials or research studies we could participate in?,What school accommodations or support services should we request?,How often should follow-up appointments and imaging be scheduled?
Common questions about Autosomal recessive spastic paraplegia type 59
What is Autosomal recessive spastic paraplegia type 59?
Autosomal recessive spastic paraplegia type 59 (SPG59) 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 59 or SPG59. This condition is caused by changes (mutations) in the USP8 gene (though more commonly attributed to mutations in the gene associated with this specific SPG type). The hallmark feature is spasticity, which means the muscles in the legs become increasingly tight and difficult to control, making walking progressively harder over t
How is Autosomal recessive spastic paraplegia type 59 inherited?
Autosomal recessive spastic paraplegia type 59 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 59 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 59 is childhood. Age of onset can vary across affected individuals.