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| Disease found: | Danon Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disorder more commonly seen in males that leads to cardiomyopathy, arrhythmias, skeletal myopathy, and mild to overt intellectual disability [more info] |
| Signs and Symptoms: | Early signs of proximal muscle problems (difficulty sitting or walking) and awkward or delayed motor skills, fatigue, shortness of breath, intellectual disability, color vision disturbances |
| Diagnosis: | 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 |
| Treatment: | Cardiac transplantation is the only definitive treatment for cardiomyopathy |
| Clinical Management: | 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; regular muscle strength assessments and eye examinations |
| Referral: | 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: | Natural history of Danon disease in males >8 yo, Phase 2 gene therapy trial in males with Danon disease, natural history in all patients with Danon disease |