Possible implication of undescribed smn1-smn2 genotype in chronic emg-pattern of sma with transitory acute denervation

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Abstract

Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized, all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old young male with normal psychomotor development who has experienced fatigue, cramps, and muscle fasciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype.

Original languageEnglish
Pages (from-to)610-613
Number of pages4
JournalJournal of Musculoskeletal Neuronal Interactions
Volume20
Issue number4
Publication statusPublished - Dec 2020

Keywords

  • Electromyography
  • Hereditary Motor Neuropathies
  • SMA
  • SMN1
  • SMN2

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Orthopedics and Sports Medicine

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