Overview
Inherited congenital spastic tetraplegia is a rare genetic condition that affects the nervous system, specifically the parts of the brain and spinal cord that control movement. In this condition, all four limbs (both arms and both legs) are affected by spasticity, which means the muscles are abnormally stiff and tight. This stiffness makes voluntary movement very difficult. The condition is present from birth or becomes apparent very early in life. Children with this condition typically show significant delays in reaching motor milestones such as sitting, crawling, and walking. Many individuals may never achieve independent walking. In addition to movement problems, some people may experience intellectual disability, difficulty with speech, seizures, and problems with swallowing or feeding. The severity can vary from person to person, even within the same family. Treatment is mainly supportive and focuses on managing symptoms. Physical therapy, occupational therapy, and speech therapy are cornerstones of care. Medications to reduce muscle stiffness, such as baclofen or botulinum toxin injections, may be used. Orthopedic surgery may be needed in some cases to correct joint or bone problems caused by chronic spasticity. There is currently no cure for this condition, but early and consistent therapy can help maximize function and quality of life.
Also known as:
Key symptoms:
Stiff and tight muscles in all four limbsDifficulty with voluntary movementsDelayed motor milestones such as sitting and walkingInability to walk independently in severe casesIntellectual disabilitySpeech and language difficultiesSeizures or epilepsyFeeding and swallowing difficultiesPoor head controlAbnormal postureJoint contractures from chronic muscle tightnessDroolingVision problemsScoliosis or other spine curvature
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Inherited congenital spastic tetraplegia.
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Specialists
View all specialists →No specialists are currently listed for Inherited congenital spastic tetraplegia.
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 Inherited congenital spastic tetraplegia.
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 genetic testing should be done to confirm the diagnosis and identify the cause?,How severe is my child's condition, and what level of function can we expect over time?,What therapies should we start right away, and how often should they occur?,Are there medications that could help reduce muscle stiffness, and what are the side effects?,Should we be concerned about seizures, and how would we recognize them?,What feeding or nutritional support might be needed?,Are there any clinical trials or emerging treatments we should know about?
Common questions about Inherited congenital spastic tetraplegia
What is Inherited congenital spastic tetraplegia?
Inherited congenital spastic tetraplegia is a rare genetic condition that affects the nervous system, specifically the parts of the brain and spinal cord that control movement. In this condition, all four limbs (both arms and both legs) are affected by spasticity, which means the muscles are abnormally stiff and tight. This stiffness makes voluntary movement very difficult. The condition is present from birth or becomes apparent very early in life. Children with this condition typically show significant delays in reaching motor milestones such as sitting, crawling, and walking. Many individua
At what age does Inherited congenital spastic tetraplegia typically begin?
Typical onset of Inherited congenital spastic tetraplegia is neonatal. Age of onset can vary across affected individuals.