Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A.
We report siblings of late-onset Charcot-Marie-Tooth disease type 1A (CMT1A) of whom the elder brother presented with drop foot. DNA analysis confirmed the 17p11.2-p12 duplication. Estimation of the age of onset is difficult in CMT1A because of the subtle and slow progress of the symptoms. These cases are unique in that the initial clinical manifestation was a pressure palsy in the brother and both siblings were quite delayed in their clinical presentations. The peripheral myelin protein-22 gene duplication is uniformly found in CMT1A patients. However, other factors influencing the disease manifestations are yet to be determined.
Abe
Y
Y
Department of Neurology, Fukushima Medical College, Hikarigaoka.
Ikegami
T
T
Hayasaka
K
K
Tanno
Y
Y
Watanabe
T
T
Sugiyama
Y
Y
Yamamoto
T
T
D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D004198:Disease Susceptibility; D005260:Female; D005528:Foot / Q000294:innervation*; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000209:etiology; D009408:Nerve Compression Syndromes / Q000209:etiology* / Q000503:physiopathology; D009431:Neural Conduction; D010375:Pedigree; D011187:Posture; D013979:Tibial Nerve / Q000293:injuries / Q000503:physiopathology*