Overview
Autosomal dominant primary hypomagnesemia with hypocalciuria is a rare inherited condition where the body cannot properly hold onto magnesium, a mineral that is essential for healthy muscles, nerves, and heart function. The kidneys lose too much magnesium in the urine, causing low magnesium levels in the blood. This condition is also sometimes called familial hypomagnesemia or FXYD2-related hypomagnesemia. Because magnesium plays a key role in how the body absorbs and uses other minerals, low magnesium can also affect calcium and potassium levels over time. People with this condition often experience muscle cramps, spasms, tremors, and weakness. Some people have episodes of abnormal heart rhythms. Symptoms can begin in childhood or early adulthood, though the severity varies widely from person to person, even within the same family. Interestingly, calcium levels in the urine are lower than normal (hypocalciuria), which is an important clue that helps doctors distinguish this condition from other causes of low magnesium. Treatment focuses on replacing magnesium through oral supplements taken daily. While this does not cure the underlying problem, it can significantly reduce symptoms and improve quality of life. Regular monitoring of blood mineral levels is important to keep magnesium in a safe range. With consistent treatment, many people manage their symptoms well, though lifelong supplementation is usually required.
Also known as:
Key symptoms:
Muscle cramps and spasmsMuscle weaknessTremors or shakingIrregular or rapid heartbeat (palpitations)Tingling or numbness in the hands, feet, or faceFatigue and low energyDizzinessDifficulty concentratingChondrocalcinosis (calcium deposits in cartilage, especially in joints)Low magnesium levels found on blood tests
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant primary hypomagnesemia with hypocalciuria.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant primary hypomagnesemia with hypocalciuria.
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 Autosomal dominant primary hypomagnesemia with hypocalciuria.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What magnesium supplement form and dose is best for me, and how do I know if it is working?,How often should I have blood and urine tests to monitor my mineral levels?,Are there any medications I should avoid because they could lower my magnesium further?,Should my family members be tested for this condition?,What symptoms should prompt me to go to the emergency room?,Is there a risk of joint problems or heart problems over time, and how can I reduce that risk?,Are there any clinical trials or new treatments I should know about?
Common questions about Autosomal dominant primary hypomagnesemia with hypocalciuria
What is Autosomal dominant primary hypomagnesemia with hypocalciuria?
Autosomal dominant primary hypomagnesemia with hypocalciuria is a rare inherited condition where the body cannot properly hold onto magnesium, a mineral that is essential for healthy muscles, nerves, and heart function. The kidneys lose too much magnesium in the urine, causing low magnesium levels in the blood. This condition is also sometimes called familial hypomagnesemia or FXYD2-related hypomagnesemia. Because magnesium plays a key role in how the body absorbs and uses other minerals, low magnesium can also affect calcium and potassium levels over time. People with this condition often ex
How is Autosomal dominant primary hypomagnesemia with hypocalciuria inherited?
Autosomal dominant primary hypomagnesemia with hypocalciuria follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.