Global Variome shared LOVD

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Phenotype #0000243109 Individual ID 00324600 Associated disease CMT Phenotype details bilateral paresis foot extensors (MRC 4), pes cavus, hypesthesia of left lower leg, absent Achilles and knee tendon reflexes at both sides; EMG near normal conduction studies of median and ulnar nerves. No recordable compound muscle action potentials and sensory nerve action potentials in distal legs; conclusion severe sensorimotor axonal polyneuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 65y (65 years) Age/Diagnosis - Age/Onset 60y 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

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