Overview
Spastic paraplegia-nephritis-deafness syndrome is an extremely rare inherited condition that affects three main parts of the body: the nervous system, the kidneys, and hearing. The name describes its three hallmark features. "Spastic paraplegia" refers to progressive stiffness and weakness in the legs caused by damage to the nerve fibers in the spinal cord that control movement. "Nephritis" means inflammation of the kidneys, which can impair the kidneys' ability to filter waste from the blood. "Deafness" refers to hearing loss, which is typically sensorineural, meaning it results from damage to the inner ear or the nerve pathways from the ear to the brain. Patients with this syndrome usually develop difficulty walking due to increasing leg stiffness and weakness. Over time, kidney function may decline, and hearing loss can worsen. The combination of these three features together in one person or family is what distinguishes this syndrome from other forms of spastic paraplegia or kidney disease alone. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on treating each symptom individually. Physical therapy and medications can help with leg stiffness, kidney disease is monitored and treated by nephrologists, and hearing aids or other devices may help with hearing loss. Early diagnosis and coordinated care from multiple specialists are important to maintain quality of life.
Key symptoms:
Progressive leg stiffness and spasticityWeakness in the legsDifficulty walkingHearing lossKidney inflammation or kidney diseaseProtein in the urineIncreased reflexes in the legsBalance problemsFatiguePossible decline in kidney function over time
Clinical phenotype terms (12)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spastic paraplegia-nephritis-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spastic paraplegia-nephritis-deafness syndrome.
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 Spastic paraplegia-nephritis-deafness syndrome.
Community
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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 severe is the kidney involvement right now, and how often should kidney function be monitored?,What type and degree of hearing loss is present, and would hearing aids or cochlear implants be helpful?,What medications or therapies can help manage the leg stiffness and spasticity?,Is genetic testing available that could confirm the diagnosis or identify the specific gene involved?,What is the expected rate of progression for each of the three main symptoms?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of the care team, and how often should we see them?
Common questions about Spastic paraplegia-nephritis-deafness syndrome
What is Spastic paraplegia-nephritis-deafness syndrome?
Spastic paraplegia-nephritis-deafness syndrome is an extremely rare inherited condition that affects three main parts of the body: the nervous system, the kidneys, and hearing. The name describes its three hallmark features. "Spastic paraplegia" refers to progressive stiffness and weakness in the legs caused by damage to the nerve fibers in the spinal cord that control movement. "Nephritis" means inflammation of the kidneys, which can impair the kidneys' ability to filter waste from the blood. "Deafness" refers to hearing loss, which is typically sensorineural, meaning it results from damage t
How is Spastic paraplegia-nephritis-deafness syndrome inherited?
Spastic paraplegia-nephritis-deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spastic paraplegia-nephritis-deafness syndrome typically begin?
Typical onset of Spastic paraplegia-nephritis-deafness syndrome is childhood. Age of onset can vary across affected individuals.