Diagnostic challenges in hereditary peripheral neuropathy in Latvia

Elīna Millere, Einars Kupats, Dmitrijs Rots, Signe Setlere, Ieva Mičule, Linda Gailīte, Viktorija Kenina

Research output: Contribution to conferenceAbstractpeer-review

Abstract

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.
Original languageEnglish
Pages208
Publication statusPublished - 24 Mar 2021
EventRSU Research week 2021: Knowledge for Use in Practice - Rīga, Latvia
Duration: 24 Mar 202126 Mar 2021
https://rw2021.rsu.lv/conferences/knowledge-use-practice

Conference

ConferenceRSU Research week 2021: Knowledge for Use in Practice
Abbreviated titleRW2021
Country/TerritoryLatvia
CityRīga
Period24/03/2126/03/21
Internet address

Field of Science

  • 3.2 Clinical medicine

Publication Type

  • 3.4. Other publications in conference proceedings (including local)

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