Global Variome shared LOVD

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Phenotype #0000337562 Individual ID 00448369 Associated disease LGMDD4;LGMD1I Diagnosis/Initial limb‑girdle muscular dystrophy Diagnosis/Definite LGMDD4 Phenotype details see paper; ..., 8y-slow, progressive weakness muscles, abnormal gait; 10y-slow, progressive weakness lower limbs, frequent falls, difficulty in standing, walking and climbing stairs; 16y-only walk unaided for <15 min, unable to raise arms above head, no sensory/ocular/bulbar abnormalities, severe weakness proximal muscles all limbs, pelvic and shoulder girdles; 16y-normal mental status, no oculomotor/facial abnormalities with sensory and coordination examinations also finding no abnormalities Inheritance Familial, autosomal dominant Age/Examination 16y (16 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 2024-03-04 20:02:13 +01:00 (CET) Date last edited N/A

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