“Red Flags” in the Evaluation of a Child With Neuromotor Delay

Red Flags: Indications for Prompt ReferralImplications
Elevated CK to greater than 3× normal values (boys and girls)Muscle destruction, such as in DMD, Becker muscular dystrophy, other disorders of muscles
Fasciculations (most often but not exclusively seen in the tongue)Lower motor neuron disorders (spinal muscular atrophy; risk of rapid deterioration in acute illness)
Facial dysmorphism, organomegaly, signs of heart failure, and early joint contracturesGlycogen storage diseases (mucopolysaccharidosis, Pompe disease may improve with early enzyme therapy)
Abnormalities on brain MRINeurosurgical consultation if hydrocephalus or another surgical condition is suspected
Respiratory insufficiency with generalized weaknessNeuromuscular disorders with high risk of respiratory failure during acute illness (consider inpatient evaluation)
Loss of motor milestonesSuggestive of neurodegenerative process
Motor delays present during minor acute illnessMitochondrial myopathies often present during metabolic stress