Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate E
Definition
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.
Also known as autosomal dominant intermediate Charcot-Marie-Tooth disease type E, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate type E, Charcot-Marie-Tooth disease-nephropathy syndrome, Charcot-Marie-Tooth disease, dominant Intermediate type E, Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis, CMTDIE — per MONDO