Clinical Guidance

Danon disease is an X-linked condition in which males are often more severely affected than females. A total of 146 molecularly confirmed affected individuals (90 males and 56 females) with Danon disease have been reported in the literature and the information below summarizes the findings in these individuals and in others who did not undergo clinical genetic testing. Table 2. Features of Danon Disease

Diagnostic Criteria

For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care . Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Formal clinical diagnostic criteria for Danon disease have not been established.

Suggestive Findings

Males

Danon disease should be suspected in a male with the following clinical, supportive laboratory, electrophysiologic, imaging, and family history findings.

Management Guidelines

Suggested treatment guidelines for Danon disease were reported by ; however, consensus management guidelines have not been published and evaluation and management is typically based on expert opinion. Although the age of onset and progression of disease are typically later and slower in females, the management approach in males and females is similar. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Danon disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Danon Disease: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

Table 6. Danon Disease: Recommended Surveillance