MDTD (Mitochondrial DNA Depletion Syndrome Type 1)

Mitochondrial DNA Depletion Syndrome Type 1 (MDTD1) is a genetic condition where the amount of mitochondrial DNA in cells is significantly reduced. Mitochondria are the energy-producing parts of our cells; when they don't have enough DNA, they can't generate energy efficiently. This leads to muscle weakness, neurological problems, and other health issues. MDTD1 is inherited and results from mutations affecting genes responsible for maintaining mitochondrial DNA. The severity varies, but it typically manifests early in life, requiring medical management to address symptoms and improve quality of life.