Living with Autosomal dominant hypocalcemia
An inherited condition with low calcium in the blood that can cause muscle spasms, tingling, and sometimes seizures.
Understanding Autosomal dominant hypocalcemia
Other blood salts can be out of balance too, such as too much phosphate or too little magnesium, and some people have low parathyroid hormone. About half of affected people have no health problems. Common features are muscle spasms in the hands and feet, cramps, and tingling. More severe cases can have seizures in infancy or childhood. Extra calcium in the urine can lead to kidney stones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle spasms in the hands and feet
- Tingling or prickling (paresthesias)
- Muscle cramping and twitching
- Seizures (in more severe cases)
- Calcium deposits in the kidneys
- Belly pain, anxiety, or depression
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 brain and nervous system specialists, 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.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ad hypocalcemia; familial hypercalciuric hypocalcemia; familial hypocalcemia; hypocalcemia, autosomal dominant
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Autosomal dominant hypocalcemia.
Explore research for Autosomal dominant hypocalcemia
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