Overview
Adult familial nephronophthisis-spastic quadriparesia syndrome (also known as adult nephronophthisis with spastic quadriplegia, or Mainzer-Saldino-like syndrome variant, Orphanet code 2666) is an extremely rare inherited condition that affects both the kidneys and the nervous system. In this syndrome, the kidneys gradually lose their ability to filter waste from the blood due to a condition called nephronophthisis, which causes scarring and cyst formation in the kidneys. At the same time, affected individuals develop spastic quadriparesis, which means increasing stiffness and weakness in all four limbs due to damage in the parts of the brain or spinal cord that control movement. Symptoms typically appear in adulthood, which is unusual because most forms of nephronophthisis begin in childhood. Patients may first notice increased thirst, frequent urination, and fatigue as their kidneys begin to fail. Over time, progressive stiffness and difficulty moving the arms and legs develop. Kidney function can decline to the point where dialysis or a kidney transplant is needed. There is currently no cure for this syndrome. Treatment focuses on managing kidney disease, including blood pressure control, dietary adjustments, and eventually renal replacement therapy such as dialysis or transplantation. The neurological symptoms are managed with physical therapy, medications to reduce muscle stiffness (spasticity), and supportive care. Because this condition is so rare, much of the management is guided by expert opinion and experience with related disorders rather than large clinical trials.
Key symptoms:
Progressive kidney failureIncreased thirst and frequent urinationStiffness in all four limbs (spastic quadriparesis)Difficulty walkingMuscle weakness in arms and legsFatigue and low energyHigh blood pressureAnemia related to kidney diseaseDifficulty with fine motor tasks like writing or buttoning clothesMuscle spasms or crampsSwelling in the legs or anklesPoor balance and coordination
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 Adult familial nephronophthisis-spastic quadriparesia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Adult familial nephronophthisis-spastic quadriparesia 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 Adult familial nephronophthisis-spastic quadriparesia syndrome.
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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.What stage is my kidney disease, and how quickly is it expected to progress?,Should I be evaluated for a kidney transplant, and when is the right time to start that process?,What medications can help with my muscle stiffness, and what are the side effects?,Are there genetic tests that could help identify the exact cause and help my family members understand their risk?,What dietary changes should I make to protect my kidneys?,How often should I have follow-up appointments and lab tests?,Are there any clinical trials or research studies I might be eligible for?
Common questions about Adult familial nephronophthisis-spastic quadriparesia syndrome
What is Adult familial nephronophthisis-spastic quadriparesia syndrome?
Adult familial nephronophthisis-spastic quadriparesia syndrome (also known as adult nephronophthisis with spastic quadriplegia, or Mainzer-Saldino-like syndrome variant, Orphanet code 2666) is an extremely rare inherited condition that affects both the kidneys and the nervous system. In this syndrome, the kidneys gradually lose their ability to filter waste from the blood due to a condition called nephronophthisis, which causes scarring and cyst formation in the kidneys. At the same time, affected individuals develop spastic quadriparesis, which means increasing stiffness and weakness in all f
How is Adult familial nephronophthisis-spastic quadriparesia syndrome inherited?
Adult familial nephronophthisis-spastic quadriparesia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Adult familial nephronophthisis-spastic quadriparesia syndrome typically begin?
Typical onset of Adult familial nephronophthisis-spastic quadriparesia syndrome is adult. Age of onset can vary across affected individuals.