Global Variome shared LOVD

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Phenotype #0000125425 Individual ID 00102734 Associated disease MD Phenotype details gait impairment since youth, stable throughout life. •Initially investigated with the suspicion of LGMD, but without specific etiology. •Proximal tetraparesis(grade 4/5, 4-/5 in lower limbs). •Currently unable to walk independently (wheelchair-bound). •Moderate intellectual disability (dementia over the last 2 yrs). •Brain MRI: white matter changes. Diagnosis/Initial dystrophy, muscular Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset - Phenotype/Onset Gait impairment Protein normal LAMA2 IHC Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-02 18:31:22 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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