Bilateral hand amyotrophy with PMP-22 gene deletion.
Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene.
Gochard
A
A
Department of Neurology and Clinical Neurophysiology, CHU Bretonneau, Tours, France.
Guennoc
A M
AM
Praline
J
J
Malinge
M C
MC
de Toffol
B
B
Corcia
P
P
D005260:Female; D017353:Gene Deletion; D006225:Hand / Q000473:pathology* / Q000502:physiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*
D009185:Myelin Proteins; C073687:PMP22 protein, human