Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-21 16:11:00 +01:00 (CET) Date last edited N/A

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