Living with Adult familial nephronophthisis-spastic quadriparesia syndrome
A rare genetic kidney condition in adults that comes with stiffness and weakness in the arms and legs.
Understanding Adult familial nephronophthisis-spastic quadriparesia syndrome
It combines familial adult medullary cystic disease (a kidney condition with cysts) with spastic quadriparesis, which means stiffness and weakness in all four limbs.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes kidney disease along with stiffness and weakness in the limbs.
- Kidney disease with cysts
- Stiffness and weakness in all four limbs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but it doesn't name a gene.
Also known as: adult familial nephronophthisis with spastic quadriparesia syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
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