Global Variome shared LOVD

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Phenotype #0000243105 Individual ID 00324596 Associated disease CMT Phenotype details onset early childhood; atrophy and weakness MRC 4+ of distal leg muscles, pes cavus and hammer toes, slight sensory disturbances of the distal legs, decreased Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 38 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 42 m/s. No compound muscle action potentials recordable left peroneal (extensor digitorum brevis muscle); decreased left compound muscle action potential amplitude of abductor hallucis brevis muscle muscle with decreased motor nerve conduction velocity. No sensory nerve action potentials recordable in arms and legs. No needle-EMG available; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 30y (30 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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