Overview
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. SPG63 is caused by mutations in the AMPD2 gene, which plays an important role in energy metabolism within cells, particularly in the nervous system. People with SPG63 typically develop symptoms in early childhood, though the exact age of onset can vary. The hallmark features include progressive difficulty walking due to increasing leg stiffness and weakness. In some cases, the condition may also be associated with intellectual disability, thin corpus callosum (the structure connecting the two halves of the brain), and other neurological problems. The severity of symptoms can differ from person to person, even within the same family. There is currently no cure for SPG63. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, stretching exercises, and medications to reduce muscle stiffness (such as baclofen or tizanidine) are commonly used. Assistive devices like braces, walkers, or wheelchairs may be needed as the condition progresses. Because SPG63 is so rare, much of the understanding of this disease comes from a very small number of reported families, and research is ongoing to better understand the condition and develop new therapies.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingLeg weaknessExaggerated reflexes in the legsIntellectual disabilityDelayed motor milestonesThin corpus callosum on brain imagingDifficulty with balance and coordinationFoot deformities such as high arches or curled toesSpeech difficultiesAbnormal gait pattern (scissoring of legs)
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 63.
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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 63.
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Caregiver Resources
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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 in my child's specific case?,What therapies and medications are recommended to manage spasticity?,Should we consider genetic counseling for our family, and what are the chances of having another affected child?,Are there any clinical trials or research studies we could participate in?,What educational and developmental support services should we arrange?,How often should we schedule follow-up appointments and imaging studies?,Are there any complications we should watch for as the disease progresses?
Common questions about Autosomal recessive spastic paraplegia type 63
What is Autosomal recessive spastic paraplegia type 63?
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. SPG63 is caused by mutations in the AMPD2 gene, which plays an important role in energy metabolism within cells, particularly in the nervous system. People with SPG63 typically develop symptoms in early childhood, though the exact age of onset can vary. The hal
How is Autosomal recessive spastic paraplegia type 63 inherited?
Autosomal recessive spastic paraplegia type 63 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 63 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 63 is childhood. Age of onset can vary across affected individuals.