TABLE 1. Neurodevelopmental Findings in Primary Mitochondrial Disease.

The presence of “Red Flag” neurologic findings warrant diagnostic consideration of primary mitochondrial disease, as do multiple “Common Nonspecific” findings. However, “Uncommon Findings” lessen the likelihood of primary mitochondrial disease in favor of other genetic and/or metabolic conditions.

RED FLAG FINDINGS:	COMMON NONSPECIFIC FINDINGS:	UNCOMMON FINDINGS:
• Myoclonus	• Myopathy	• Structural Brain Anomalies
• Encephalopathy	• Hypotonia	• Dysmorphic Features
• Stroke in Non-Vascular Pattern	• Status Epilepticus	• Severe Intellectual Disability Out of Proportion to Neurologic Findings
	• Intractable Epilepsy
• Epilepsia Partialis Continua	• Coma	• Isolated Speech Delay
• Symmetric Basal Ganglia Hyperintensities	• Chorea or Movement Disorder	• Rhabdomyolysis and/or Baseline Elevated CK
	• Pervasive Developmental Delay
• Cerebral or Cerebellar Atrophy	• Autism Spectrum Behaviors
	• ADHD
	• Axonal Neuropathy
	• Sensorineural Hearing Loss
	• Autonomic Dysfunction
	• Psychiatric Disease (i.e., Depression, Anxiety, Obsessive Compulsive Disorder)
	• Dementia