Phenotype #0000317699

Individual ID	00426544
Associated disease	MDC
Phenotype details	3y-head control; no motor regression; contractures knee, ankle, elbow, hip; 1y-scoliosis; 1d-respiratory difficulty, 1y-3y-recurrent respiratory tract infection; normal ultrasonic cardiogram; no feeding difficulty; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 1.1y-5901 U/L; EMG 4m-myopathic changes; MRI brain abnormal white matter hyperintensities; 3d-mechanical ventilation; pectus excavatum
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	8.7y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, weak cry, feeding difficulty, respiratory difficulty
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-01 16:50:45 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD