Overview
Autosomal recessive spastic paraplegia type 77 (SPG77) is an extremely rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is caused by mutations in the FARS2 gene, which provides instructions for making an enzyme important for energy production inside cells, particularly in the mitochondria (the energy factories of cells). When this enzyme does not work properly, nerve cells that control movement gradually become damaged. People with SPG77 typically develop progressive spasticity (stiffness) in the lower limbs, which makes walking increasingly difficult over time. Additional features may include problems with balance and coordination (cerebellar ataxia), and in some cases, cognitive difficulties or epilepsy. The severity of symptoms can vary between individuals, even within the same family. Because SPG77 is so rare, there is currently no specific cure or disease-modifying treatment available. Management focuses on relieving symptoms and maintaining quality of life. This includes physical therapy to manage spasticity, medications to reduce muscle stiffness, and supportive care from a team of specialists. 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 walkingLeg weaknessProblems with balance and coordinationIncreased muscle tone in the legsExaggerated reflexesDifficulty with fine movementsSeizures or epilepsy in some casesCognitive difficulties in some casesFatigueFoot deformities such as high archesBladder control problems
Clinical phenotype terms (37)— 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 recessive spastic paraplegia type 77.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 77.
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 77.
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Caregiver Resources
NORD Caregiver Resources
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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 would be most helpful right now?,Are there medications that can help with the leg stiffness?,Should other family members be tested for FARS2 mutations?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications should we consider?,How often should we schedule follow-up neurological evaluations?
Common questions about Autosomal recessive spastic paraplegia type 77
What is Autosomal recessive spastic paraplegia type 77?
Autosomal recessive spastic paraplegia type 77 (SPG77) is an extremely rare inherited neurological condition that primarily affects the nervous system, leading to progressive stiffness and weakness in the legs. It is caused by mutations in the FARS2 gene, which provides instructions for making an enzyme important for energy production inside cells, particularly in the mitochondria (the energy factories of cells). When this enzyme does not work properly, nerve cells that control movement gradually become damaged. People with SPG77 typically develop progressive spasticity (stiffness) in the low
How is Autosomal recessive spastic paraplegia type 77 inherited?
Autosomal recessive spastic paraplegia type 77 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.