Overview
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (also known as PASNA syndrome) is an extremely rare genetic condition that affects both the adrenal glands and the brain. The disease is caused by mutations in the CACNA1D gene, which provides instructions for making a type of calcium channel found in many tissues throughout the body, including the adrenal glands and the nervous system. In this condition, the adrenal glands produce too much of a hormone called aldosterone. Aldosterone normally helps control blood pressure and the balance of salt and water in the body. When too much aldosterone is made, it can lead to high blood pressure and low potassium levels. At the same time, the brain is also affected, leading to seizures (epilepsy) and other neurological problems such as developmental delays, movement difficulties, and sometimes cerebral palsy-like features. Because this syndrome affects multiple body systems, treatment requires a team of specialists. Managing the excess aldosterone may involve medications that block its effects, such as mineralocorticoid receptor antagonists (like spironolactone or eplerenone). Seizures are treated with anti-epileptic medications. There is currently no cure, and treatment focuses on managing symptoms and preventing complications like dangerously high blood pressure or uncontrolled seizures.
Key symptoms:
High blood pressure, sometimes severeSeizures or epilepsyLow potassium levels in the bloodDevelopmental delayMuscle stiffness or spasticityDifficulty with movement and coordinationIntellectual disabilityAbnormal involuntary movementsCerebral palsy-like symptomsExcessive aldosterone productionFailure to thrive in infancyDifficulty feeding as a babyHeart rhythm problems
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Primary hyperaldosteronism-seizures-neurological abnormalities syndrome.
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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 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific CACNA1D mutation does my child have, and what does it mean for their prognosis?,What medications are best for controlling both the high blood pressure and the seizures?,How often should blood pressure and potassium levels be checked?,Are there any experimental or targeted therapies being studied for this condition?,What therapies (physical, occupational, speech) should we start, and how often?,What should I do if my child has a prolonged seizure at home?,Should other family members be tested for this genetic change?
Common questions about Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
What is Primary hyperaldosteronism-seizures-neurological abnormalities syndrome?
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (also known as PASNA syndrome) is an extremely rare genetic condition that affects both the adrenal glands and the brain. The disease is caused by mutations in the CACNA1D gene, which provides instructions for making a type of calcium channel found in many tissues throughout the body, including the adrenal glands and the nervous system. In this condition, the adrenal glands produce too much of a hormone called aldosterone. Aldosterone normally helps control blood pressure and the balance of salt and water in the body. Whe
How is Primary hyperaldosteronism-seizures-neurological abnormalities syndrome inherited?
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary hyperaldosteronism-seizures-neurological abnormalities syndrome typically begin?
Typical onset of Primary hyperaldosteronism-seizures-neurological abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Primary hyperaldosteronism-seizures-neurological abnormalities syndrome?
1 specialists and care centers treating Primary hyperaldosteronism-seizures-neurological abnormalities syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.