Overview
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome is an extremely rare genetic condition that affects several body systems. The hallmark of this disease is abnormally low levels of magnesium in the blood (hypomagnesemia), which the body cannot properly regulate. This low magnesium leads to generalized seizures, which are episodes of uncontrolled electrical activity in the brain that can cause shaking, loss of consciousness, and other symptoms. Children with this condition also experience intellectual disability, meaning they have difficulties with learning, reasoning, and problem-solving compared to their peers. Obesity, or significant excess body weight, is another key feature of this syndrome. The condition typically becomes apparent in early life, often during infancy or childhood, when seizures may first occur. The low magnesium levels are caused by problems with how the kidneys or intestines handle magnesium, leading to ongoing deficiency despite a normal diet. Because magnesium plays a critical role in nerve and muscle function, its deficiency can cause widespread effects throughout the body. Treatment currently focuses on managing symptoms. Magnesium supplementation is a cornerstone of care, aiming to raise and maintain blood magnesium levels to reduce seizure risk. Anti-seizure medications may also be needed. Supportive therapies for intellectual disability, such as special education and developmental therapies, are important. Weight management strategies including dietary guidance and physical activity programs help address obesity. There is currently no cure for this condition, and lifelong management is typically required.
Key symptoms:
Low magnesium levels in the bloodSeizures (convulsions)Intellectual disabilityObesity or significant weight gainDevelopmental delaysLearning difficultiesMuscle cramps or spasmsTremors or involuntary movementsFatigue or low energyBehavioral difficultiesSpeech and language delays
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome.
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Specialists
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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-generalized seizures-intellectual disability-obesity syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.What is my child's current magnesium level and what is the target range we should aim for?,How often should blood magnesium levels be checked?,What type and dose of magnesium supplement is best, and are there side effects to watch for?,What seizure medications do you recommend, and what are the potential side effects?,What early intervention or developmental therapies should we start right away?,Should we see a dietitian to help manage weight, and are there specific dietary guidelines?,Are there any clinical trials or new research studies we should know about for this condition?
Common questions about Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
What is Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome?
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome is an extremely rare genetic condition that affects several body systems. The hallmark of this disease is abnormally low levels of magnesium in the blood (hypomagnesemia), which the body cannot properly regulate. This low magnesium leads to generalized seizures, which are episodes of uncontrolled electrical activity in the brain that can cause shaking, loss of consciousness, and other symptoms. Children with this condition also experience intellectual disability, meaning they have difficulties with learning, r
How is Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome inherited?
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome typically begin?
Typical onset of Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome is infantile. Age of onset can vary across affected individuals.