Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

• Charcot-Marie-Tooth is a group of heterogeneous motor and sensory neuropathies.
• Final genetic diagnosis is poor in Charcot-Marie-Tooth2 and in distal Hereditary Motor Neuropathy.
• Epidemiological data and clinical “phenotyping” remain the best strategy for a correct genetic diagnosis.

ObjectivesCMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). Distal Hereditary Motor Neuropathy (dHMN) is a motor neuropathy/neuronopathy which resembles CMT. Final genetic diagnosis is poor in CMT2 and in dHMN when compared with CMT1. Our aim is to report clinical, neurophysiological and genetic findings in a cohort of patients with axonal inherited neuropathies.Patients and methodsWe report clinical, neurophysiological and genetic findings from 45 patients with CMT2 or dHMN, coming from 39 unrelated families, observed in our Institute of Neurology over a 20-year period.ResultsClinical and electrophysiological examinations showed that 38 patients had CMT2 and 7 patients presented dHMN. Extensive genetic evaluation showed 6 mutations in MFN2, 4 mutations in HSPB1, 2 mutations in BSCL2, 3 mutations in GJB1, 1 mutation in MPZ.ConclusionSince next-generation sequencing will not be easily accessible, epidemiological data and clinical “phenotyping” remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients.