Overview
Severe intellectual disability and progressive spastic paraplegia is a very rare genetic condition that affects both brain development and the nervous system's ability to control movement. People with this condition have significant intellectual disability, meaning they have serious difficulties with learning, reasoning, and daily problem-solving from early in life. Over time, they also develop spastic paraplegia, which means the muscles in the legs become increasingly stiff and tight, making walking and movement progressively harder. This stiffness is caused by damage to the long nerve fibers in the spinal cord that control leg movement. The condition typically begins in early childhood. Children may show delayed developmental milestones, such as sitting, crawling, and walking later than expected, or they may never achieve independent walking. Speech development is also significantly affected. As the disease progresses, the leg stiffness worsens, and some individuals may eventually need a wheelchair for mobility. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain flexibility and prevent joint contractures, medications to reduce muscle stiffness (such as baclofen or tizanidine), speech therapy, and special education support. A team of specialists typically works together to provide the best possible care for affected individuals and their families.
Also known as:
Key symptoms:
Severe intellectual disabilityProgressive leg stiffness and spasticityDelayed developmental milestonesDifficulty walking or inability to walkSpeech and language delaysIncreased muscle tone in the legsExaggerated reflexesDifficulty with fine motor skillsBalance and coordination problemsPossible seizuresDifficulty with bladder controlJoint contractures from muscle tightnessLimited ability to care for oneself
Clinical phenotype terms (37)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Severe intellectual disability and progressive spastic paraplegia.
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Specialists
View all specialists →No specialists are currently listed for Severe intellectual disability and progressive spastic paraplegia.
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 Severe intellectual disability and progressive spastic paraplegia.
Community
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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 specific gene mutation is causing this condition in my child, and what does it mean for their future?,What therapies should we start right away to give the best possible outcomes?,Are there any clinical trials or research studies we should consider?,How can we best manage the increasing leg stiffness over time?,What educational and developmental support services are available?,Should other family members be tested to see if they carry the gene mutation?,What should we watch for as warning signs that the condition is getting worse?
Common questions about Severe intellectual disability and progressive spastic paraplegia
What is Severe intellectual disability and progressive spastic paraplegia?
Severe intellectual disability and progressive spastic paraplegia is a very rare genetic condition that affects both brain development and the nervous system's ability to control movement. People with this condition have significant intellectual disability, meaning they have serious difficulties with learning, reasoning, and daily problem-solving from early in life. Over time, they also develop spastic paraplegia, which means the muscles in the legs become increasingly stiff and tight, making walking and movement progressively harder. This stiffness is caused by damage to the long nerve fibers
How is Severe intellectual disability and progressive spastic paraplegia inherited?
Severe intellectual disability and progressive spastic paraplegia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe intellectual disability and progressive spastic paraplegia typically begin?
Typical onset of Severe intellectual disability and progressive spastic paraplegia is infantile. Age of onset can vary across affected individuals.