[Hereditary neuropathy with pressure hypersensitivity or tomaculous neuropathy].
Hereditary neuropathy liability to pressure palsies is characterized by recurring accesses of painless paralysis at the level of various nerves likely to be compressed. This affection remains underdiagnosed because of its usually benign course, sometimes without any symptom. The diagnosis is supported by clinical and electrophysiological data associated with, in the majority of patients, a deletion of one of the alleles coding for protein PMP 22 on the level of the locus 17p11.2.
Tinant
F
F
Service de Médecine de l'Appareil locomoteur et d'Electroneuromyographie, CHU, Sart Tilman, 4000 Liège.
Zeevaert
B
B
Benkirane
H
H
Laurent
L
L
Wang
F
F
D000328:Adult; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003937:Diagnosis, Differential; D017353:Gene Deletion; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction; D010243:Paralysis / Q000209:etiology / Q000473:pathology*
D009185:Myelin Proteins; C073687:PMP22 protein, human