Danon disease
Evidence-based neurology checklist on danon disease: Genetics This is caused by mutations in LAMP-2 gene The transmission is X-linked dominant The mutation results in a cardioskeletal myopathy Males are worse affected: they have complete loss of LAMP2 expression Neurological features Psychiatric…
Genetics
- This is caused by mutations in LAMP-2 gene
- The transmission is X-linked dominant
- The mutation results in a cardioskeletal myopathy
- Males are worse affected: they have complete loss of LAMP2 expression
Neurological features
Psychiatric features
Cardiac features
Ophthalmic features
Muscle biopsy
Management
References
- Sugie K, Yamamoto A, Murayama K, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58:1773-1778.
- Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med 2011; 13:563-568.
- Sugie K, Komaki H, Eura N, et al. A nationwide survey on Danon disease in Japan. Int J Mol Sci 2018; 19:3507.
- Bhat V, Harikrishna GV, Kumar H, Kodapala S. Dropped head syndrome secondary to Danon disease: a case report. Cureus 2023; 15:e41191.
- Yardeni M, Weisman O, Mandel H, et al. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). Am J Med Genet A 2017; 173:2461-2466.
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