Charcot-Marie-Tooth (CMT) disease is the commonest inhereted neuropathy with previous studies charac- terising cohorts in Europe and USA. This Scottish single-centre retrospective cross-sectional study aimed to report frequency of CMT subtypes and characterise clinical, genetic, and electrophysiological features.

Electronic medical record data were collected from patients attending a specialist clinic. Data included patient demographics, neurological examination, family history, pain, and reports from allied health pro- fessionals, genetics, and neurophysiology. Data were analysed using descriptive statistics.

150 molecularly characterised and 39 uncharacterised patients were included comprising 78 patients with CMT1A (78), 5 with CMT1B, 5 with CMT1E, 25 with CMT1X, 17 with CMT2, 3 with CMT4 and 14 with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). There were similarities in generic neuropathy features, however, differences were observed. In this cohort, CMT1A patients had a lower prevalence of distal muscle wasting; CMT1B patients had an earlier mean presentation age and greater scoliosis prevalence; CMT1E patients had a later mean presentation age; CMT1X patients had greater tremor prevalence; HNPP patients showed lower morbidity.

This study provides the first Scottish data on CMT subtypes and their associated characteristics. It is anticipated this provides a representative baseline that will support investigation, management, and research of CMT.