The range of weakness severity among TK2-deficient patients parallels the spectrum of SMA with infantile-onset TK2 myopathy resembling SMA type 1 and severe type 2, childhood-onset myopathy similar to milder type 2 and 3a SMA, and late-onset myopathy comparable to SMA types 3b and IV, although the weakness is more progressive.10 28 32 Genetic screening for TK2 deficiency must be considered in children, particularly infants, with rapidly progressing muscle weakness, especially when associated with elevated blood lactate and CK. This evidence concerns the gene TK2 and proximal spinal muscular atrophy.