Living with Aldosterone-producing adenoma with seizures and neurological abnormalities
A rare genetic condition with early, severe high blood pressure, low potassium, seizures, and nervous system problems.
Understanding Aldosterone-producing adenoma with seizures and neurological abnormalities
The body makes too much of the hormone aldosterone (primary hyperaldosteronism), which causes severe high blood pressure and low potassium early in life. People also have nervous system problems, including seizures, very low muscle tone, stiff muscles (spasticity), cerebral palsy, and profound developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High blood pressure (hypertension)
- High aldosterone level
- Seizures
- Cerebral palsy
- Severe intellectual disability
- Extreme thirst (polydipsia)
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 hormone specialists.
- 3Consider genetic testing
Changes in CACNA1D are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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
Changes in the CACNA1D gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: aldosterone-secreting adenoma with seizures and neurological abnormalities; apa with seizures and neurological abnormalities; complex neurodevelopmental disorder with or without aldosteronism; conn adenoma with seizures and neurological abnormalities; primary aldosteronism, seizures, and neurologic abnormalities; primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Aldosterone-producing adenoma with seizures and neurological abnormalities.
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