Overview
Autosomal recessive spastic paraplegia type 76 (also called SPG76 or AR-SPG76) is a rare inherited neurological disease that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which are all characterized by progressive stiffness and weakness in the legs. SPG76 is caused by changes (mutations) in the CAPN1 gene, which provides instructions for making a protein called calpain-1. This protein plays an important role in keeping nerve cells healthy and functioning properly. People with SPG76 typically experience slowly worsening muscle stiffness (spasticity) and weakness in their legs, which makes walking increasingly difficult over time. Some individuals also develop problems with coordination (ataxia), making balance harder to maintain. In some cases, mild difficulties with thinking or memory may also be present. The upper limbs are usually much less affected than the legs. There is currently no cure for SPG76. Treatment focuses on managing symptoms to improve quality of life. This includes physical therapy to maintain mobility, medications to reduce muscle stiffness, and assistive devices such as walking aids or wheelchairs when needed. Research into this condition is ongoing, and genetic diagnosis is now possible through specialized testing.
Also known as:
Key symptoms:
Progressive leg stiffness (spasticity)Leg muscle weaknessDifficulty walking or changes in walking pattern (gait problems)Balance and coordination problems (ataxia)Reduced reflexes or abnormally brisk reflexes in the legsFoot deformities such as high arches (pes cavus)Mild cognitive difficulties in some individualsBladder control problems in some casesFatigue with physical activityGradual loss of independence in walking over years
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spastic paraplegia type 76.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic paraplegia type 76.
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 76.
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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 genetic testing do you recommend to confirm the diagnosis of SPG76?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,What medications or therapies are available to help manage my leg stiffness and weakness?,Should other family members be tested for the CAPN1 gene mutation?,Are there any clinical trials or research studies I could participate in?,What specialists should be part of my care team, and how often should I be seen?,What can I do at home — such as exercises or lifestyle changes — to help maintain my mobility for as long as possible?
Common questions about Autosomal recessive spastic paraplegia type 76
What is Autosomal recessive spastic paraplegia type 76?
Autosomal recessive spastic paraplegia type 76 (also called SPG76 or AR-SPG76) is a rare inherited neurological disease that mainly affects the nerves controlling movement in the legs. It belongs to a large family of conditions called hereditary spastic paraplegias (HSPs), which are all characterized by progressive stiffness and weakness in the legs. SPG76 is caused by changes (mutations) in the CAPN1 gene, which provides instructions for making a protein called calpain-1. This protein plays an important role in keeping nerve cells healthy and functioning properly. People with SPG76 typically
How is Autosomal recessive spastic paraplegia type 76 inherited?
Autosomal recessive spastic paraplegia type 76 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive spastic paraplegia type 76 typically begin?
Typical onset of Autosomal recessive spastic paraplegia type 76 is adult. Age of onset can vary across affected individuals.