Overview
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome is a very rare inherited condition that affects how the body handles magnesium, a mineral that is essential for normal brain and nerve function. In this condition, the body cannot properly absorb or keep enough magnesium, leading to very low magnesium levels in the blood. This is called hypomagnesemia. Because magnesium plays a key role in controlling electrical signals in the brain, low levels can trigger seizures that are very hard to control with standard anti-seizure medicines — which is why they are called 'refractory' seizures. Beyond seizures, this condition also affects brain development, leading to intellectual disability, which means affected individuals may have difficulty with learning, communication, and daily tasks. Symptoms often appear very early in life, sometimes in the newborn period or during infancy. Other features can include muscle cramps, tremors, and developmental delays. Treatment focuses on replacing magnesium through supplements, often given by mouth or through a vein, to try to raise magnesium levels and reduce seizures. However, even with magnesium replacement, seizures can remain difficult to control in many patients. There is currently no cure, and management requires ongoing care from a team of specialists. This condition is also sometimes referred to as hypomagnesemia with secondary hypocalcemia or related magnesium transport disorders, depending on the specific gene involved.
Key symptoms:
Very low magnesium levels in the bloodSeizures that are hard to control with standard medicinesIntellectual disability or learning difficultiesMuscle cramps or spasmsTremors or shakingDevelopmental delays (late to sit, walk, or talk)Low calcium levels in the blood (hypocalcemia)Irritability or unusual fussiness in infantsPoor feeding in newbornsMuscle weakness
Clinical phenotype terms (12)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Primary hypomagnesemia-refractory seizures-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Primary hypomagnesemia-refractory seizures-intellectual disability syndrome.
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 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome.
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Caregiver Resources
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Family & Caregiver Grants
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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 change does my child have, and what does that mean for their prognosis?,What is the target magnesium level we are aiming for, and how often should we check blood levels?,What should I do if my child has a prolonged seizure at home — do we need a rescue medication?,Are there any clinical trials or research studies we could consider joining?,What developmental therapies are most important to start right away?,Should other family members be tested for this gene change?,What signs should prompt me to go to the emergency room immediately?
Common questions about Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
What is Primary hypomagnesemia-refractory seizures-intellectual disability syndrome?
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome is a very rare inherited condition that affects how the body handles magnesium, a mineral that is essential for normal brain and nerve function. In this condition, the body cannot properly absorb or keep enough magnesium, leading to very low magnesium levels in the blood. This is called hypomagnesemia. Because magnesium plays a key role in controlling electrical signals in the brain, low levels can trigger seizures that are very hard to control with standard anti-seizure medicines — which is why they are called 'refrac
How is Primary hypomagnesemia-refractory seizures-intellectual disability syndrome inherited?
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary hypomagnesemia-refractory seizures-intellectual disability syndrome typically begin?
Typical onset of Primary hypomagnesemia-refractory seizures-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.