Co-occurrence of myotonic dystrophy type 1 and hereditary neuropathy with liability to pressure palsies: A case report

Abstract

This report is the first documented co-occurrence of myotonic dystrophy type 1 (DM1) and hereditary neuropathy with liability to pressure palsies (HNPP); rare neuromuscular disorders with distinct genetic etiologies (DMPK CTG expansion, PMP22 deletion). A 22-year-old soldier underwent clinical evaluation for weakness of both fingers after physical training. Clinical features included percussion myotonia, grip difficulty (DM1), and limb numbness, weakness, absent reflexes (HNPP). NCS showed widespread demyelination; EMG confirmed myotonic discharges. This novel overlap underscores the need for comprehensive neurophysiological and genetic evaluations in atypical presentations. The absence of prior reports suggests coincidental co-occurrence, emphasizing vigilance for multiple pathologies.