Danon Disease

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Genetic disorder more commonly seen in males that leads to cardiomyopathy, arrhythmias, skeletal myopathy, and mild to overt intellectual disability

Common symptoms

Early signs of proximal muscle problems (difficulty sitting or walking) and awkward or delayed motor skillsfatigueshortness of breathintellectual disabilitycolor vision disturbances

When to suspect

  • Recommendation 1

    Family history compatible with X-linked dominant inheritance, skeletal muscle biopsy showing vacuolization and glycogen build-up, genetic testing of the LAMP2 gene is the gold standard

How to test

  • Recommendation 1

    Family history compatible with X-linked dominant inheritance, skeletal muscle biopsy showing vacuolization and glycogen build-up, genetic testing of the LAMP2 gene is the gold standard

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Cardiac transplantation is the only definitive treatment for cardiomyopathy

Primary care

  • Recommendation 1

    Imaging of the heart including echocardiography and cardiac MRI to determine degree of cardiomyopathy and treating with heart failure drugs, consideration for early defibrillator placement and evaluation for cardiac transplantation

  • Recommendation 2

    regular muscle strength assessments and eye examinations

Further support

  • Recommendation 1

    cardiologist, neurologist, ophthalmologist, geneticist, genetic counselor, rehabilitation physician, educational specialist, and physical therapist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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