Saratov JOURNAL of Medical and Scientific Research

Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type)

Year: 2016, volume 12 Issue: №3 Pages: 370-375
Heading: Neurology Article type: Case report
Authors: Kolokolova A.M., Sitkali I.V., Kolokolov O.V.
Organization: Saratov State Medical University

Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis) in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results). Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis) helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

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