Phenotype #0000296458

Individual ID	00403759
Associated disease	CMT
Phenotype details	normal pregnancy and delivery, normal developmental milestones; 11y-progressive distal weakness both upper and lower limbs, pain distal parts limbs involving toes and fingers; 12y-toe deformity, hammer toes; walks without support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toes; normal muscle power both upper limbs; dorsiflexors toes and ankles grade 0, planter flexors toes and ankles grade 2-3; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, bilateral planter no response, stocking and glove hypothesia, lost vibration both LLs.
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT2EE
Age/Examination	13y (13 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 16:11:00 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD