Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

Muscle Nerve. 1996 Jan;19(1):74-8. doi: 10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3.


This study presents a longitudinal comparison of motor nerve conduction velocities (MCVs) in patients with Charcot-Marie-Tooth type 1A with proven duplication of a segment of chromosome 17p11.2p12. Results were compared for 8 CMT1A duplication patients from one family whose MCV measurements were taken 22 years apart (1967 and 1989). Measurements from a total of seven median motor and five peroneal motor MCVs were compared. Median MCVs showed a slight reduction that averaged 2.2 m/s, and peroneal MCVs showed an average decrease of 3.0 m/s. In addition, mild objective increase in limb weakness was seen in only 1 of 8 patients and subjective symptoms of gradual worsening of leg strength were noted in half the patients over the same period. In this study of a small group of CMT1A patients with proven segmental duplication of chromosome 17p11.2p12, the motor conduction velocities and clinical motor exam did not change significantly over 22 years.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Median Nerve / physiopathology
  • Multigene Family*
  • Muscle Weakness / etiology
  • Muscles / physiopathology
  • Neural Conduction
  • Peroneal Nerve / physiopathology
  • Reaction Time
  • Reflex, Stretch