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
Created by	Johan den Dunnen
Date created	2020-12-20 14:20:17 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD