Phenotype #0000243115

Individual ID	00324606
Associated disease	CMT
Phenotype details	diffuse paresis of psoas foot extensors MRC 4), toe extensors and extensors hallicus (MRC 3 (right), MRC 4 (left)), pes cavus, no vibration sense toes, absent Achilles tendon jerks, other reflexes brisk; EMG right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 51 m/s. Non-recordable compound muscle action potentials right peroneal (extensor digitorum brevis muscle) and left tibial (abductor hallucis brevis muscle) nerves. Non-recordable sensory nerve action potential left sural nerve (lateral malleolus). Signs of reinnervation in distal leg muscle; conclusion severe sensorimotor axonal polyneuropathy
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	44y
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