Phenotype #0000317663

Individual ID	00426508
Associated disease	MDC
Phenotype details	3.4y-died severe pneumonia; 12m-head control, 14m-sit; no motor regression; contractures knee, ankle; no spinal deformity; recurrent respiratory tract infection, severe pneumonia; ECG sinus tachycardia; normal ultrasonic cardiogram; 1d-feeding difficulty; no intellectual disability, no seizures; raised serum CK highest 1.4y-1630 U/L; EMG myopathic changes, reduced motor nerve conduction velocity, reduced motor nerve compound muscle action potential amplitude; MRI brain abnormal white matter hyperintensities
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	3.4y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, feeding 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