Overview
Spastic paraplegia-severe developmental delay-epilepsy syndrome is an extremely rare genetic condition that affects the brain and nervous system. It is sometimes referred to by its Orphanet designation (ORPHA:464282). This syndrome combines three main features: spastic paraplegia (stiffness and weakness in the legs caused by damage to nerve pathways in the brain and spinal cord), severe developmental delay (children reach milestones like sitting, walking, and talking much later than expected, or may not reach them at all), and epilepsy (recurrent seizures). Children with this condition typically show signs very early in life, often in infancy, with poor muscle tone that may later evolve into spasticity, along with seizures that can be difficult to control with standard medications. Because this is such a rare condition, the treatment landscape is currently limited to managing symptoms rather than curing the underlying cause. Anti-epileptic medications are used to help control seizures, physical therapy and rehabilitation help manage spasticity and support motor development, and specialized educational support addresses the developmental delays. Affected children usually require multidisciplinary care involving neurologists, geneticists, rehabilitation specialists, and developmental pediatricians. Research into the genetic basis of this syndrome is ongoing, and understanding the specific gene involved (HACE1) has opened the door to potential future targeted therapies, though none are currently available.
Key symptoms:
Stiffness and tightness in the legs (spasticity)Severe delays in learning to sit, walk, and talkSeizures (epilepsy)Intellectual disabilityPoor muscle tone in early infancyDifficulty with coordination and balanceLimited or absent speechDifficulty feedingAbnormal movementsSmall head size (microcephaly)Difficulty with fine motor skills like grasping objectsBehavioral challengesReduced ability to walk independently
Clinical phenotype terms (40)— 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 Spastic paraplegia-severe developmental delay-epilepsy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spastic paraplegia-severe developmental delay-epilepsy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Spastic paraplegia-severe developmental delay-epilepsy syndrome.
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 Spastic paraplegia-severe developmental delay-epilepsy syndrome.
Community
No community posts yet. Be the first to share your experience with Spastic paraplegia-severe developmental delay-epilepsy syndrome.
Start the conversation →Latest news about Spastic paraplegia-severe developmental delay-epilepsy syndrome
No recent news articles for Spastic paraplegia-severe developmental delay-epilepsy syndrome.
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 type of seizures does my child have, and what is the best medication to control them?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies (physical, occupational, speech) should we start, and how often?,What should I do if my child has a prolonged seizure at home?,How will this condition affect my child's development over time, and what milestones can we work toward?,Should other family members be tested for carrier status of the HACE1 gene mutation?,What resources or support groups are available for families affected by this condition?
Common questions about Spastic paraplegia-severe developmental delay-epilepsy syndrome
What is Spastic paraplegia-severe developmental delay-epilepsy syndrome?
Spastic paraplegia-severe developmental delay-epilepsy syndrome is an extremely rare genetic condition that affects the brain and nervous system. It is sometimes referred to by its Orphanet designation (ORPHA:464282). This syndrome combines three main features: spastic paraplegia (stiffness and weakness in the legs caused by damage to nerve pathways in the brain and spinal cord), severe developmental delay (children reach milestones like sitting, walking, and talking much later than expected, or may not reach them at all), and epilepsy (recurrent seizures). Children with this condition typical
How is Spastic paraplegia-severe developmental delay-epilepsy syndrome inherited?
Spastic paraplegia-severe developmental delay-epilepsy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spastic paraplegia-severe developmental delay-epilepsy syndrome typically begin?
Typical onset of Spastic paraplegia-severe developmental delay-epilepsy syndrome is infantile. Age of onset can vary across affected individuals.