Global Variome shared LOVD

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Phenotype #0000358248 Individual ID 00473453 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset since 5y ago with unilateral hand tremor, at rest, which extended to whole body; Mild weakness; Dysphagia; Dysarthria; Normal Brain MRI; Low ceruloplasmin & high copper level in the urine, suspicion of Wilson disease; EMG-NCV: moderate neurogenic process involving both upper/lower limb and cranial muscles with signs of old axonal loss probably suggestive of motor neuron disorder Inheritance Unknown Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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