Global Variome shared LOVD

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Phenotype #0000296667 Individual ID 00404075 Associated disease CMT Phenotype details 72-y old man with progressive weakness and wasting of both lower limbs, stocking and glove hypothesia, pes cavus. He developed diabetes at the age of 65. He had 8 sons and daughters with similar condition started in their adulthood in all except one son (12 y old) who developed frequent falling, mild lower limb weakness and stocking hypothesias at the age of 10. five sons has diabetes in their third decade. Nerve conduction velocity study of the proband and his siblings showed mixed demyelinating and axonal peripheral neuropathy which were done earlier at onset before the development of diabetes by many years. Diagnosis/Initial Autosomal recessive Hereditary sensorimotor neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite CMT-2 Age/Examination 72y (72 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-02-25 22:32:05 +01:00 (CET) Date last edited 2022-03-03 11:43:15 +01:00 (CET)

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