Overview
Autosomal spastic paraplegia type 58 (SPG58) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It is also known as hereditary spastic paraplegia type 58 or SPG58. The disease is caused by changes (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, the long nerve fibers (axons) that connect the brain and spinal cord to the legs gradually break down. The hallmark symptom is progressive stiffness and weakness in the legs, known as spasticity, which makes walking increasingly difficult over time. SPG58 is considered a "complicated" form of hereditary spastic paraplegia, meaning it can involve additional neurological problems beyond leg stiffness. These may include cerebellar ataxia (problems with balance and coordination), tremor, difficulty with speech, and sometimes mild intellectual difficulties. The severity and combination of symptoms can vary even among members of the same family. There is currently no cure for SPG58. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, medications to reduce muscle stiffness (such as baclofen or tizanidine), and assistive devices like braces or walkers are commonly used. Research into the underlying biology of hereditary spastic paraplegias is ongoing, and scientists hope to develop targeted therapies in the future.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Difficulty walkingProblems with balance and coordination (ataxia)Tremor, especially in the handsSlurred or slow speechWeakness in the legsExaggerated reflexesDifficulty with fine motor tasksFoot deformities such as high arches or curled toesBladder control problemsMild cognitive or learning difficulties in some casesFatigue during physical activity
Clinical phenotype terms (33)— hover any for plain English
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 spastic paraplegia type 58.
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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 spastic paraplegia type 58.
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Caregiver Resources
NORD 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 specific KIF1C mutations were found, and what do they mean for my (or my child's) prognosis?,How quickly is this condition likely to progress in our case?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any medications that could help with the stiffness or tremor?,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 or plan for in the future?
Common questions about Autosomal spastic paraplegia type 58
What is Autosomal spastic paraplegia type 58?
Autosomal spastic paraplegia type 58 (SPG58) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It is also known as hereditary spastic paraplegia type 58 or SPG58. The disease is caused by changes (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, the long nerve fibers (axons) that connect the brain and spinal cord to the legs gradually break down. The hallmark symptom is progressive stiffness and weakness in the
How is Autosomal spastic paraplegia type 58 inherited?
Autosomal spastic paraplegia type 58 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.