Global Variome shared LOVD

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Phenotype #0000358105 Individual ID 00473310 Associated disease SMA Phenotype details onset 14y ago; Lower & upper distal muscle weakness & atrophy due to neuropathy; Difficulty heel & toe walking; EMG-NCV: chronic motor polyneuropathy/neuronopathy with addition evidence of bilateral CTS. Diagnosis/Initial spinal myscular atrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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