Phenotype #0000296450

Individual ID	00403693
Associated disease	CMT
Phenotype details	normal pregnancy and delivery, normal developmental milestones; 12y-progressive distal weakness both upper and lower limbs, wasting muscles hands and feet; 13y-decreased sensation distal parts limbs; frequent trauma feet due to insensitivity to pain; suggestive autonomic manifestation frequent swelling of feet; 14y-foot deformity, high arched; walks with mild support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toe; muscle power hand grip grade 3-4; dorsiflexors toes and ankles grade 0, planter flexors of toes and ankles grade 0-1, knee and hip flexors and extensors grade 4; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, no response planter bilaterally, stocking and glove hypothesia, lost deep sensation both LLs; positive Romberg’s sign; thickened peroneal nerves bilterally; no electrical response distally from LLs, axonal neuropathy upper limbs
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT2EE
Age/Examination	19y (19 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 15:11:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD