Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000243104 Individual ID 00324595 Associated disease CMT Phenotype details paralysis feet, otherwise no examination performed; EMG median motor nerve conduction velocitys forearm left 11 m/s and right 17 m/s, although with very low compound muscle action potential amplitudes (abductor pollicis brevis muscle) both sides; Ulnar motor nerve conduction velocity forearm both sides 40 m/s, upper arm left 32 m/s and right 35 m/s with relatively normal compound muscle action potential amplitudes (abductor digiti minimi muscle). Very low to non-recordable sensory nerve action potential amplitudes in arms and legs. Signs of de- and reinnervation in predominantly distal arm muscles (legs not assessed); conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 65y (65 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-20 14:20:17 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.