Living with Intestinal hypomagnesemia 1
A genetic condition with very low magnesium and calcium levels, causing seizures that start in the first months of life.
Understanding Intestinal hypomagnesemia 1
It begins in the first months of life with repeated seizures that don't respond to usual treatment. Other features include muscle spasms (tetany), poor weight gain, restlessness, tremors, and bluish skin around the mouth. The low magnesium leads to low parathyroid hormone and low calcium.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Muscle spasms of the hands and feet (tetany)
- Muscle cramps
- Poor weight gain (failure to thrive)
- Tremors
- Abnormal heart rhythm
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 genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in TRPM6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney Foundation and other patient organizations
- 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
Changes in the TRPM6 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: familial primary hypomagnesemia caused by mutation in trpm6; homg1; hsh; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemia with secondary hypocalcemia
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intestinal hypomagnesemia 1.
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