Overview
Autosomal recessive spastic paraplegia type 64 (SPG64) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It belongs to a large group of disorders called hereditary spastic paraplegias (HSPs), which share the hallmark feature of gradually increasing muscle tightness (spasticity) in the lower limbs. SPG64 is caused by mutations in the ENTPD1 gene (also known as NTPDase1 or CD39), which plays a role in how cells process certain signaling molecules. People with SPG64 typically develop symptoms in early childhood. The most common features include difficulty walking due to leg stiffness, intellectual disability, and delayed developmental milestones. Some individuals may also experience speech difficulties, thin or underdeveloped brain structures (such as a thin corpus callosum visible on brain MRI), and other neurological problems. The severity can vary between affected individuals, even within the same family. Currently, there is no cure for SPG64. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to maintain mobility and reduce stiffness, medications to ease muscle spasticity (such as baclofen or tizanidine), speech therapy, and educational support for intellectual challenges. A team of specialists typically works together to provide the best care for affected individuals. Research into hereditary spastic paraplegias is ongoing, and understanding of this specific subtype continues to grow.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingIntellectual disabilityDelayed developmental milestonesSpeech difficultiesWeakness in the legsAbnormal gait or walking patternThin corpus callosum on brain imagingIncreased muscle reflexesToe walking or foot deformitiesLearning difficultiesBalance problems
Clinical phenotype terms (9)— 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 64.
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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 64.
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Caregiver Resources
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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 and medications can help manage spasticity and improve mobility?,Should other family members be tested for carrier status?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up visits with the neurologist and other specialists?,What signs should prompt us to seek urgent medical attention?
Common questions about Autosomal recessive spastic paraplegia type 64
What is Autosomal recessive spastic paraplegia type 64?
Autosomal recessive spastic paraplegia type 64 (SPG64) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It belongs to a large group of disorders called hereditary spastic paraplegias (HSPs), which share the hallmark feature of gradually increasing muscle tightness (spasticity) in the lower limbs. SPG64 is caused by mutations in the ENTPD1 gene (also known as NTPDase1 or CD39), which plays a role in how cells process certain signaling molecules. People with SPG64 typically develop symptoms in earl
How is Autosomal recessive spastic paraplegia type 64 inherited?
Autosomal recessive spastic paraplegia type 64 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 64 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 64 is childhood. Age of onset can vary across affected individuals.