Phenotype #0000357929

Individual ID	00473134
Associated disease	CMT
Phenotype details	onset 8y with feet weakness; Difficulty running & climbing steps; Muscle weakness, distal > proximal, lower > upper limbs; Muscle wasting, atrophy of thenar & hypothenar; Speech problem; Swallowing & chewing difficulty; Claw finger/toe deformity; Pes cavus, bilateral; Wheelchair bound since 45y, EMG-NCV: chronic axonal sensorimotor polyneuropathy.
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD