Common features include:
• Recurrent lactic acidosis,
• Stroke-like episodes with acute vision loss,
• Leukoencephalopathy, with or without cavitating lesions,
• Hypotonia or spasticity,
• Mild to moderate developmental delay,
• Exercise intolerance,
• Optic neuropathy (notably reported in adult-onset presentations).
• Variability in disease severity and progression.
Notably, one patient showed non-progressive disease stabilized with mitochondrial cocktail therapy.
LYRM7