Phenotype #0000296449

Individual ID	00403750
Associated disease	CMT
Phenotype details	normal pregnancy and delivery, normal developmental milestones; 8y-progressive trophic changes feet in form of frequent ulceration sole feet; sensory loss distal parts limbs; frequent ulcer surgeries, 9y6m-osteomyelitis; no distal muscle weakness; walks without support; bilateral pes cavus, hammer toes, tropic changes feet, clubbing fingers, hyperextension fingers, distal hypotonia around ankles and toes; normal muscle power upper and lower limbs, bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT2EE
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-21 14:58:38 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD