Overview
Autosomal recessive spastic paraplegia type 45 (SPG45) is a very rare inherited neurological condition that primarily affects the nervous system, especially the nerves that control movement in the legs. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the lower limbs. SPG45 is caused by mutations in the NT5C2 gene, which plays a role in how the body processes certain building blocks of DNA and RNA called purines. People with SPG45 typically develop symptoms in early childhood. The hallmark feature is progressive spasticity in the legs, which makes walking increasingly difficult over time. In addition to leg stiffness, many affected individuals also experience intellectual disability, which can range from mild to severe. Some patients may also have thin corpus callosum (the structure connecting the two halves of the brain), short stature, and other neurological problems. There is currently no cure for SPG45. Treatment focuses on managing symptoms and improving quality of life. Physical therapy and stretching exercises are important for maintaining mobility and reducing muscle stiffness. Medications such as baclofen or tizanidine may be used to help control spasticity. Orthopedic interventions, including braces or surgery, may be needed in some cases. Speech therapy and educational support can help children with intellectual disability reach their full potential. Because this is such a rare condition, care is best coordinated by a team of specialists familiar with hereditary spastic paraplegias.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingIntellectual disabilityDelayed developmental milestonesShort statureThin corpus callosum on brain imagingWeakness in the legsAbnormal gait or walking patternDifficulty with fine motor skillsSpeech and language delaysLearning difficultiesIncreased muscle tone in the legsExaggerated reflexes
Clinical phenotype terms (14)— 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
FDA & Trial Timeline
10 eventsBlackfinBio Ltd — PHASE1, PHASE2
Shanghai 6th People's Hospital
Shanghai 6th People's Hospital
IRCCS Eugenio Medea — NA
Shanghai 6th People's Hospital — EARLY_PHASE1
Boston Children's Hospital
IRCCS Fondazione Stella Maris
University of California, San Diego
Boston Children's Hospital
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 45.
12 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 45.
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 45.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 symptoms for my child specifically?,How often should we schedule physical therapy, and what exercises can we do at home?,Are there any medications that could help with the leg stiffness, and what are the side effects?,Should we get a brain MRI, and how often should imaging be repeated?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?,What does genetic counseling mean for our family, and should other family members be tested?
Common questions about Autosomal recessive spastic paraplegia type 45
What is Autosomal recessive spastic paraplegia type 45?
Autosomal recessive spastic paraplegia type 45 (SPG45) is a very rare inherited neurological condition that primarily affects the nervous system, especially the nerves that control movement in the legs. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the lower limbs. SPG45 is caused by mutations in the NT5C2 gene, which plays a role in how the body processes certain building blocks of DNA and RNA called purines. People with SPG45 typically develop symptoms in early childhood. The hal
How is Autosomal recessive spastic paraplegia type 45 inherited?
Autosomal recessive spastic paraplegia type 45 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 45 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 45 is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Autosomal recessive spastic paraplegia type 45?
Yes — 12 recruiting clinical trials are currently listed for Autosomal recessive spastic paraplegia type 45 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.