Clinical and neurological characteristic of hereditary sensorimotor neuropathy type 1A

doi:10.26565/2312-5675-2020-14-05

Iryna O. Hovbakh Kharkiv Academy of Postgraduate Education, 61176, Kharkiv, Amosova st., 58 https://orcid.org/0000-0003-2572-6353
Olena Ya. Grechanina Kharkiv Specialized Center of Medical Genetics, 61022, Kharkiv, 13 Nezalezhnosti Avenue https://orcid.org/0000-0002-8196-1617
Ludmila V. Molodan Kharkiv National Medical University, 61022, Kharkiv, 4 Nauky Avenue; Kharkiv Specialized Center of Medical Genetics, 61022, Kharkiv, 13 Nezalezhnosti Avenue https://orcid.org/0000-0002-0564-090X

DOI: https://doi.org/10.26565/2312-5675-2020-14-05

Keywords: hereditary motor-sensory neuropathies, clinical characteristics, genetic anamnesis, neurological status

Abstract

The article presents the results of our own study, the purpose of which was to study the clinical and neurological characteristics of hereditary sensorimotor neuropathy type 1A. 153 patients (82 men and 71 women) from 214 families were examined in detail. Patients with both previously diagnosed HSMN type 1A and newly diagnosed were examined. The vast majority of patients (72.5%) had a disease duration of more than 10 years. All examined patients underwent the following volume of diagnostic tests: collection of complaints and history of the underlying disease; study of somatic and neurological status; clinical and genealogical analysis of pedigree. A set of additional research methods included: clinical analysis of blood and urine; blood tests for glucose, urea, creatinine, calcium, liver enzymes, protein composition; Ultrasound of the abdominal cavity, radiography of the chest, thoracic and lumbar spine, blood tests for HIV. When studying the clinical picture of the disease, the subjects were divided into 3 groups depending on the duration of the disease: 1st group - the duration of the disease is less than 5 years; 2nd group - the duration of the disease from 5 to 10 years; 3rd group, the duration of the disease is more than 10 years. Based on the data of the study involving 153 patients, the main clinical and neurological characteristics of hereditary motor-sensory neuropathy type 1A are: family history with autosomal dominant type of inheritance; manifestation of the disease under the age of 20; symmetry of the lesion; progressive paresis and muscle wasting of the lower upper extremities; reduction of the reflex sphere; violation of all types of sensitivity of the extremities; Friedreich-type foot deformity; deformation of the hands; slowly progressive type of disease with a predominance of mild to moderate disease.

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