Global Variome shared LOVD

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Phenotype #0000314428 Individual ID 00423224 Associated disease MYOP Phenotype details rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and is currently with tracheostomy and ventilator dependent at night and most of the day time; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset 01y Phenotype/Onset difficult in bending or turning head sideways in addition to spine rigidity Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-11 16:58:40 +01:00 (CET) Date last edited N/A

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