Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
Isabella Di SarnoStefano TozzaFilippo Maria SantorelliEmanuele CassanoGemma NataleRaffaele DubbiosoLucia RuggieroAlessandra TessaRosa IodiceMaria NolanoFiore ManganelliPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
Diagnosis of a genetic neuropathy may be challenging when clinical features are atypical and/or electrophysiological features are misleading. The most common misdiagnosis is CIDP. Our report suggests that also CMT2CC patients with proximal muscle weakness and equivocal electrophysiological features might be misdiagnosed as CIDP.