Overview
Autosomal recessive spastic paraplegia type 68 (SPG68) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It is also known as SPG68 or spastic paraplegia 68. The disease is caused by mutations in the KIF1C gene, which provides instructions for making a protein involved in transporting materials within nerve cells. When this protein does not work properly, nerve cells that control movement gradually become damaged. People with SPG68 typically develop progressive spasticity (stiffness) in the lower limbs, which makes walking increasingly difficult over time. Additional features may include problems with coordination (cerebellar ataxia), difficulty with fine motor skills, and in some cases mild intellectual difficulties. The severity can vary between affected individuals, even within the same family. There is currently no cure for SPG68. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy to preserve mobility, medications to reduce muscle stiffness, and assistive devices such as braces or wheelchairs as needed. Occupational therapy and speech therapy may also be helpful depending on the individual's specific symptoms. Research into hereditary spastic paraplegias is ongoing, and understanding of this condition continues to grow.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingProblems with balance and coordinationWeakness in the legsTremorDifficulty with fine motor tasksUnsteady gait (ataxia)Increased muscle tone in the legsExaggerated reflexesMild intellectual difficulties in some casesSpeech difficulties in some casesFoot deformities such as high arches
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 68.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 68.
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 68.
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.How quickly is this condition likely to progress in my case or my child's case?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any medications that could help with the stiffness and spasms?,Should other family members be tested for carrier status?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications should we consider now?,How often should we schedule follow-up appointments to monitor progression?
Common questions about Autosomal recessive spastic paraplegia type 68
What is Autosomal recessive spastic paraplegia type 68?
Autosomal recessive spastic paraplegia type 68 (SPG68) is a very rare inherited neurological condition that primarily affects the nervous system, causing progressive stiffness and weakness in the legs. It is also known as SPG68 or spastic paraplegia 68. The disease is caused by mutations in the KIF1C gene, which provides instructions for making a protein involved in transporting materials within nerve cells. When this protein does not work properly, nerve cells that control movement gradually become damaged. People with SPG68 typically develop progressive spasticity (stiffness) in the lower l
How is Autosomal recessive spastic paraplegia type 68 inherited?
Autosomal recessive spastic paraplegia type 68 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.