Phenotype #0000317754

Individual ID	00426599
Associated disease	MDC
Phenotype details	6m-head control, 10m-sit; 6y-loss rolling, 9y-loss sitting; contractures knee, ankle, elbow, hip; 3y-scoliosis; 1y-12y-recurrent respiratory tract infection; ECG normal; normal ultrasonic cardiogram; 1d-feeding difficulty; difficulty chewing; no regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 1y-596 U/L; EMG myopathic changes; MRI brain 1.3y-abnormal white matter hyperintensities; pectus excavatum
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	13.8y
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	muscle weakness, hypotonia, weak cry
Protein	1.8y-IHC no LAMA2
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