Living with Familial hypoparathyroidism
A group of inherited conditions where the parathyroid glands make too little hormone, causing low blood calcium.
Understanding Familial hypoparathyroidism
These conditions affect how the body handles calcium. They do not come with other hormone problems or developmental defects. They can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle spasms and muscle weakness
- Seizures
- Irregular heart rate (arrhythmia)
- Clouding of the eye lens (cataract)
- Abnormal tooth enamel and late teeth coming in
- Calcium deposits in the brain
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 eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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 genes cause it. It can be passed down in an autosomal dominant, autosomal recessive, or X-linked way.
Also known as: casr-related familial isolated hypoparathyroidism; familial isolated hypoparathyroidism; fih; gcm2-related familial isolated hypoparathyroidism; hypoparathyroidism familial isolated; hypoparathyroidism, familial
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 Familial hypoparathyroidism.
Explore research for Familial hypoparathyroidism
Explore actively recruiting Familial hypoparathyroidism studies with HealthSpark.
Find actively recruiting studies for Familial hypoparathyroidism with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial hypoparathyroidism studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial hypoparathyroidism
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial hypoparathyroidism experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.