Global Variome shared LOVD

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Phenotype #0000314425 Individual ID 00423221 Associated disease MYOP Phenotype details diaphragmatic weakness with dyspnea; rigid spine; onset respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset; dyspnea, patient on non-invasive respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 500-700 u/l Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before 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 2022-11-11 16:44:18 +01:00 (CET) Date last edited N/A

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