Danon disease

info · Genetic · ICD-10: E74.05

A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.

Signs and symptoms

Elevated circulating creatine kinase activity
Severely reduced left ventricular ejection fraction
Muscle weakness
Skeletal muscle autophagosome accumulation
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Congestive heart failure
Intellectual disability
Atrial arrhythmia
Distal muscle weakness

Also known as: ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II