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.
Killian
J M
JM
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Tiwari
P S
PS
Jacobson
S
S
Jackson
R D
RD
Lupski
J R
JR
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