Danon Disease
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Pathogenesis
- Undefined – LAMP-2 protein plays an undefined role in lysosomal cellular biology but patients with Danon disease are known to have hypertrophic autophagic vacuoles in muscle cells.
Clinical
- Onset: Childhood – Adolescence.
- Neurological manifestations: Myopathy & Cognitive Delay
- Systemic manifestations: Cardiomyopathy (hypertrophic)
Genetics
- LAMP2 gene mutation
- X-linked (Males more affected than females [but no male to male inheritance]).
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov