Hereditary sensory motor polyneuropathy

Abstract

© E .L. Gabbasova, A.E. Komissarov, O.E. Agranovich, M.V. Savina, E.A. Kochenova, S.I. Trofimova, A.D. Slobodina, E. Shagimardanova, L. Shigapova, S.V. Sarantceva. Background. Congenital contractures are a heterogeneous group of diseases with different prognosis and different treatment modalities. Clinical case. This article describes a family case of hereditary sensory motor polyneuropathy caused by the mutation of с.943G>A (р.Arg315Trp) in the transient receptor potential vanilloid cation channel 4 (TRPV4) (NM_021625.4). The patient’s clinical and neurological characteristics as well as the results of genetic and neurophysiological examinations are presented. Discussion. Most often, mutations in the TRPV4 lead to 3 main diseases: Autosomal dominant hereditary sensory motor neuropathy, type 2C, scapuloperoneal spinal muscular atrophy, and congenital non-progressive distal spinal muscular atrophy with contractures. The present article describes in detail the differential diagnosis of hereditary sensory motor polyneuropathy to facilitate accurate verification of this disease by clinicians. Conclusion. Patients with congenital multiple contractures need cooperative observation and examination by orthopedic surgeons and neurologists, including neurophysiological and genetic interventions in the examination plan for disease verification in order to optimize the treatment strategy and to predict the outcomes.