Global Variome shared LOVD

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Phenotype #0000296448 Individual ID 00403749 Associated disease CMT Phenotype details normal pregnancy and delivery, normal developmental milestones; 6y-progressive distal weakness, wasting both LL and UL; 10y-progressive feet deformity, sensory loss distal parts limbs taking glove and stock distribution; walks without support; Charcot joints, bilateral pes cavus (not correctable), hammer toes, tropic changes hands and feet, distal hypotonia around ankles and toes; muscle power around toes and ankle dorsiflexion is grade 2; weak hand grip grade 4; motor power around elbow, shoulders, knees and hips grade 5; bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking and glove 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 15y (15 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 14:56:24 +01:00 (CET) Date last edited N/A

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