Diagnostic challenges in hereditary peripheral neuropathy in Latvia

Charcot – Marie – Tooth (CMT) disease is the most common inherited disease of the peripheral nervous system. CMT is characterized by a chronic both motor and sensory polyneuropathy. CMT1A is the most common CMT type, followed by CMTX1 and other subtypes. CMT is often unrecognised leading to underdiagnosis in population and late diagnosis for patient. The goal of the study was to evaluate time till diagnosis for hereditary neuropathy patients in Latvia. One hundred and one hereditary neuropathy patient were enrolled in the study. Patients responded to an sociodemographic questionnaire including questions about diagnosis confirmation. In our study group (n=101) the mean age was 37.9 ± 18.4 years. Majority of patients (42.6%, n=43) were diagnosed with CMT1A type, 10 patients (9.9%) had CMTX1 type, 3 patients (3%) had HNPP, 2 patients (2%) had CMT2A type and 2 patients (2%) had HINT1 neuropathy with neuromyotonia, other (40.6%, n=41) remained without known genetic mutation. Mean age of first symptom development was 16.1 ± 14.0 years, it was earlier in HINT1 neuropathy patients (9.0 ± 1.4 years) and later in genetically unknown mutation patients (20.6 ± 17.3 years). Mean age, when diagnosis was made, was 29.7 ± 17.6 years, earlier in CMT2A patients (13.5 ± 3.5 years) and later in CMT1A (30.9 ± 17.2 years). Mean time from first symptoms to diagnosis was 13.6 ± 14.7 years, earlier in CMT2A (3.0 ± 4.2 years) and later in CMT1A patients (18.0 ± 17.0 years). Time from first symptoms till diagnosis in hereditary neuropathy patients is approximately 13.6 years. Patients with CMT1A type had the longest time from first symptom development till diagnosis. Awareness of hereditary peripheral neuropathy should be raised among doctors and society to ensure timely diagnosis since possible treatment is under development.