Global Variome shared LOVD

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Phenotype #0000317760 Individual ID 00426605 Associated disease MDC Phenotype details 5m-head control, 9m-sit; 6y-loss rolling, 19y-loss sitting; contractures knee, ankle, elbow, hip; 8y-scoliosis; 13y-respiratory difficulty, 13y-20y-recurrent respiratory tract infection; ECG 10y-sinus tachycardia; ultrasonic cardiogram mild tricuspid regurgitation; difficulty chewing; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 3m-4479 U/L; EMG 6m, 8.8y-myopathic changes; MRI brain 8.8y, 11.1y-abnormal white matter hyperintensities; 18.9y-non-invasive mechanical ventilation Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Age/Examination 20.8y Age/Diagnosis - Age/Onset 1d Phenotype/Onset muscle weakness, hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-01 16:50:45 +01:00 (CET) Date last edited N/A

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