Global Variome shared LOVD

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Phenotype #0000243106 Individual ID 00324597 Associated disease CMT Phenotype details weakness (MRC 4) of the distal arm and leg muscles. No foot deformities, no sensory disturbances, absent Achilles tendon jerks, extensor plantar response on the left; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 40 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 39 m/s. No compound muscle action potentials recordable from the peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in the arms and legs. Signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor axonal polyneuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - 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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