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 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.
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
J M
JM
Killian
P S
PS
Tiwari
S
S
Jacobson
R D
RD
Jackson
J R
JR
Lupski
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D005810:Multigene Family; D018908:Muscle Weakness / Q000209:etiology; D009132:Muscles / Q000503:physiopathology; D009431:Neural Conduction; D010543:Peroneal Nerve / Q000503:physiopathology; D011930:Reaction Time; D012026:Reflex, Stretch