Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). The series comprises a proband patient aged 55 years and her two affected daughters aged 32 and 23. MR imaging study included T1- and fat suppressed T2-weighted spin-echo sequences. MR imaging study showed extensive fatty infiltration of all calf muscle compartments with relative preservation of the deep posterior one. Fatty muscle infiltration increased distally in 19 out of 66 (23%) visualized calf muscles in the three patients, but this percentage increased to 64% in the youngest and least severe patient. Muscle edema without contrast enhancement was present in 23% of calf muscles. There was massive fatty atrophy of foot musculature. We conclude that MR imaging study accurately depicts lower limb muscle involvement in CMT2 caused by DNM2 mutation.
Gallardo
Elena
E
Services of Radiology, Clinical Neurophysiology and Neurology, University Hospital Marqués de Valdecilla, (CIBERNED and IFIMAV), Santander, Spain.
Claeys
Kristl G
KG
Nelis
Eva
E
García
Antonio
A
Canga
Ana
A
Combarros
Onofre
O
Timmerman
Vincent
V
De Jonghe
Peter
P
Berciano
José
J
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D034285:Dynamin II / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007866:Leg; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation
D034285:Dynamin II