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The value of family investigations in newly detected Charcot-Marie-Tooth disease in children

  • Living Pediatrics Symposium in Honour of the 80th Birthday of Professor E. Rossi, Berne, Switzerland
  • Published:
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Abstract

Charcot-Marie-Tooth disease (CMT) was diagnosed by nerve conduction velocity and histology of the sural nerve in two boys aged 3 and 6 years with clinical signs of a severe neuromuscular disease. DNA analysis revealed the typical duplication on chromosome 17p 11.2 (2.7 kb allele) for CMT 1A. Although none of their family members reported symptoms of neuromuscular disease, the nerve conduction velocity was reduced in three members (father and two aunts). They were homozygous for the 2.7 kb allele and were assumed to carry three copies of this allele. The very differing clinical picture from one generation to the next in patients with identical neurophysiological and genetic results is discussed.

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Abbreviations

CMT :

Charcot-Marie-Tooth disease

NCV :

nerve conduction velocity

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Authors and Affiliations

  1. Department of Medical Genetics, University Children's Hospital, CH-4058, Basel, Switzerland

    H. J. Müller & N. J. Malik

  2. Kantonsspital Bruderholz, Children's Hospital, CH-4101, Bruderholz, Switzerland

    J. Lütschg

Authors
  1. J. Lütschg
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  2. H. J. Müller
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  3. N. J. Malik
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In honour of Professor Ettore Rossi's 80th birthday

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Lütschg, J., Müller, H.J. & Malik, N.J. The value of family investigations in newly detected Charcot-Marie-Tooth disease in children. Eur J Pediatr 154 (Suppl 4), S40–S43 (1995). https://doi.org/10.1007/BF02191504

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  • DOI: https://doi.org/10.1007/BF02191504

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