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

Sangeeta Gupta, Gaurav Gupta, Ovais Karnain Wadoo, Surjit Singh


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.


Charcot-Marie-Tooth disease, Nerve conduction studies

Full Text:



Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Dis. 1991;1(1):19-29.

Dyck, PJ, Lambert, EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol. 1968;18(6):619-25.

Oh SJ, Kim DE, Kuruoglu HR. What is the best diagnostic index of conduction block and temporal dispersion? Muscle Nerve. 1994 May;17(5):489-93.

Lewis RA, Sumner AJ. The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies. Neurol. 1982 Jun;32(6):592-6.

Li J, Krajewski K, Shy ME, Lewis RA. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurol. 2002 Jun;58(12):1769-73.

Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980 Jun;103(2):259-80.

Krajewski KM1, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 2000 Jul;123(Pt 7):1516-27.