Global Variome shared LOVD

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Phenotype #0000319007 Individual ID 00428061 Associated disease ALS Phenotype details progressive painless weakness both hands; generalized polytopic muscle fasciculations, muscle paresis finger adduction/abduction, finger extension, thumb opposition, wrist extension/flexion and hip flexion; split hand sign both sides; brisk muscle reflexes left upper limb with decreased ankle jerks bilaterally; no sensory/proprioceptive deficits, no ataxia/vestibulopathy; EMG degenerative motor neuron disease; bilaterally absent sural/superficial peroneal nerve potentials and sensory evoked potentials tibial nerves; vestibular testing by inner ear calorics/video-assisted head-impulse-test isolated bilateral presbyvestibulopathy low-frequency range Diagnosis/Initial progressive painless weakness both hands Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 64y (64 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 2022-12-20 15:46:42 +01:00 (CET) Date last edited 2022-12-20 15:52:17 +01:00 (CET)

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