Phenotype #0000317725

Individual ID	00426570
Associated disease	MDC
Phenotype details	13y6m-died feeding difficulty; 13m-head control, 1y-sit; 9y-loss sitting; contractures knee, ankle, elbow, hip; 8y-scoliosis; recurrent respiratory tract infection; ECG 8d-sinus tachycardia; ultrasonic cardiogram patent foramen ovale; difficulty chewing, difficulty swallowing, constipation; no regular rehabilitation; no intellectual disability, 3y-epilepsy; raised serum CK highest 1.5y-1573 U/L; EMG 4y-myopathic changes, reduced motor nerve conduction velocity, reduced motor nerve compound muscle action potential amplitude; MRI brain 15d-normal, abnormal white matter hyperintensities, 1.7y-occipital pachygyria
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	13.5y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia
Protein	1.3y-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