Phenotype #0000296463

Individual ID	00403765
Associated disease	CMT2
Phenotype details	The proband is a-16-years old female who is a product of normal pregnancy and delivery of two healthy parents (consanguineous marriage). She developed the illness at the age of 6 which started as tiptoe walking, progressive upper and lower limbs weakness and wasting followed by bilateral foot drop. She was ambulant and walk without support. She has a brother 30 years old with similar condition and nearly started at the same patient’s onset. Neurological examination revealed wasting of small muscles of the hands, forearms and legs, marked on the left side; weakness of hand grips, fingers, ankles dorsiflexion and planter flexion (grade: 2/3); diminished deep tendon jerks in both upper and lower limbs; lost planter response; stocking and glove hypesthesia, lost deep sensation in lower limbs, bilateral foot drop. Nerve conduction velocity study showed mainly axonal peripheral neuropathy.
Diagnosis/Initial	CMT-2
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT-2
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	06y
Phenotype/Onset	6y
Protein	GDAP1
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-22 00:23:32 +01:00 (CET)
Date last edited	2022-03-03 10:32:18 +01:00 (CET)