Overview
Genetic primary hypomagnesemia is a rare inherited condition where the body cannot properly absorb or keep enough magnesium. Magnesium is a mineral that your body needs for muscles, nerves, and the heart to work correctly. In this condition, the kidneys or intestines lose too much magnesium, causing levels in the blood to drop dangerously low. This is sometimes called 'familial hypomagnesemia' or 'hereditary hypomagnesemia,' depending on the specific type. Because magnesium is so important for so many body functions, low levels can cause a wide range of symptoms. These include muscle cramps, tremors, seizures, and irregular heartbeats. Some forms also affect calcium and potassium levels, making symptoms worse. Babies and young children may show signs first, though some forms appear later in life. It is important to know that the Orphanet code 34526 is now listed as 'obsolete,' meaning this broad category has been reorganized into more specific subtypes — each linked to a different gene. Treatment usually involves taking magnesium supplements by mouth or through an IV. While this does not cure the underlying genetic cause, it can control symptoms effectively in many patients. Regular monitoring by a specialist is essential to keep magnesium levels stable and prevent complications.
Key symptoms:
Muscle cramps or spasmsTremors or shakingSeizuresIrregular or fast heartbeatNumbness or tingling in the hands and feetMuscle weaknessFatigue and low energyDifficulty swallowingIrritability or mood changesPoor growth in infants and childrenLow calcium levels in the bloodLow potassium levels in the bloodKidney stones or calcium deposits in the kidneys (in some subtypes)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Genetic primary hypomagnesemia.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Genetic primary hypomagnesemia.
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 OBSOLETE: Genetic primary hypomagnesemia.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing my (or my child's) hypomagnesemia, and what does that mean for treatment?,How often do I need blood and urine tests to monitor my magnesium levels?,What is the best form and dose of magnesium supplement for my situation?,Are my kidneys at risk of long-term damage, and how can we protect them?,Should other family members be tested for this condition?,What should I do — or where should I go — if I have a seizure or my symptoms suddenly get much worse?,Are there any clinical trials or new treatments I should know about?
Common questions about OBSOLETE: Genetic primary hypomagnesemia
What is OBSOLETE: Genetic primary hypomagnesemia?
Genetic primary hypomagnesemia is a rare inherited condition where the body cannot properly absorb or keep enough magnesium. Magnesium is a mineral that your body needs for muscles, nerves, and the heart to work correctly. In this condition, the kidneys or intestines lose too much magnesium, causing levels in the blood to drop dangerously low. This is sometimes called 'familial hypomagnesemia' or 'hereditary hypomagnesemia,' depending on the specific type. Because magnesium is so important for so many body functions, low levels can cause a wide range of symptoms. These include muscle cramps,