A family with Charcot-Marie-Tooth disease (type 1): evaluating diagnostic role of nerve conduction studies

Authors

  • Sangeeta Gupta Department of Physiology, M.M.I.M.S.R., Mullana-Ambala-133207, Haryana
  • Gaurav Gupta Department of Surgery, M.M.I.M.S.R., Mullana-Ambala-133207, Haryana
  • Ovais Karnain Wadoo Department of Physiology, M.M.I.M.S.R., Mullana-Ambala-133207, Haryana
  • Surjit Singh Department of Physiology, M.M.I.M.S.R., Mullana-Ambala-133207, Haryana

Keywords:

Charcot-Marie-Tooth disease, Nerve conduction studies

Abstract

We aimed to report a case history of a family with Charcot-Marie-Tooth disease and to assess the role of nerve conduction studies in the diagnosis. A 10-year-old girl presented with difficulty in walking with a history of delayed motor milestones and slowly progressive weakness in distal muscles of both the lower limbs, with similar group of complaints in her father and a younger brother. Clinical examination of the patients was done and nerve conduction studies were performed. Clinical features and nerve conduction studies suggested the diagnosis as Charcot-Marie-Tooth disease with characteristic electro-diagnostic findings of Charcot-Marie-Tooth disease type-1. Charcot-Marie-Tooth disease is a rare disorder found in India. Although genetic tests form the basis of accurate diagnosis, yet nerve conduction studies, to a great extent, prove to be remarkable in approaching the diagnosis and distinguishing the common subtypes of this rare condition.

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Published

2017-01-24

How to Cite

Gupta, S., Gupta, G., Wadoo, O. K., & Singh, S. (2017). A family with Charcot-Marie-Tooth disease (type 1): evaluating diagnostic role of nerve conduction studies. International Journal of Research in Medical Sciences, 2(3), 1147–1150. Retrieved from https://www.msjonline.org/index.php/ijrms/article/view/2372