Living with Isolated autosomal dominant hypomagnesemia, Glaudemans type
An inherited condition with low magnesium in the blood, causing muscle cramps, tremor, and weakness.
Understanding Isolated autosomal dominant hypomagnesemia, Glaudemans type
This is a form of familial primary hypomagnesemia. Blood magnesium is low but urine magnesium is normal. It affects the kidneys and body chemistry (metabolism). Symptoms include repeated muscle cramps, episodes of tetany (muscle spasms), tremor, and weakness, especially in the arms and legs far from the body. It can start in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD says the typical features are:
- Repeated muscle cramps
- Episodes of tetany (muscle spasms)
- Tremor
- Muscle weakness, especially in the hands and feet
- Low blood magnesium
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 KCNA1 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 KCNA1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: isolated autosomal dominant hypomagnesemia glaudemans type
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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