Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
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 tak...
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Published in | Muscle & nerve Vol. 19; no. 1; pp. 74 - 78 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
New York
John Wiley & Sons, Inc
01.01.1996
Wiley |
Subjects | |
Online Access | Get full text |
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Summary: | 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. © 1996 John Wiley & Sons, Inc. |
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Bibliography: | istex:68523606F714D723EB3548AC03716653557743E1 National Institutes of Neurological Disorder and Stroke - No. NS27042 ark:/67375/WNG-2PC404ZN-S ArticleID:MUS10 Muscular Dystrophy Association ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0148-639X 1097-4598 |
DOI: | 10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3 |