Hereditary neuropathies & als

Hereditary neuropathies (HNs) are a group of disorders, clinically and genetically heterogeneous, mostly corresponding to Charcot-Marie-Tooth disease (CMT). They share distal atrophy, weakness and hypo/areflexia usually described in older ages of childhood. Patients with clinical manifestations of early onset are infrequently described. To characterize clinically, neurophysiological and genetically, 44 patients affected by HNs presenting clinical symptoms before two years of age. A retrospective observational study.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: E. Bobadilla-Quesada, G. Nolasco, G. Salerno, A. Nascimento, L. Carrera-Garc ía, D. Natera-de Benito, J. Exposito, J. Colomer, A. Fronggia, V. Sáez, D. Yubero, L. Martorell, F. Bass, J. Medina, C. Ortez Source Type: research