Phenotype #0000317751

Individual ID	00426596
Associated disease	MDC
Phenotype details	8.6y-died severe pneumonia; 1y-head control, 1.1y-sit; 6.5y-loss sitting; contractures knee, ankle, elbow, hip; 5y-scoliosis; recurrent respiratory tract infection; ECG normal; ultrasonic cardiogram 2y-mild tricuspid regurgitation; difficulty chewing, constipation; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 3m-3983 U/L; EMG 2m-myopathic changes, reduced motor nerve conduction velocity; MRI brain 9m, 2.3y-abnormal white matter hyperintensities, pontine hypoplasia
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	8.6y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, weak cry, feeding difficulty
Protein	3m-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