Phenotype #0000317717

Individual ID	00426562
Associated disease	MDC
Phenotype details	8m-head control, 1y-sit; 12y-loss rolling; contractures elbow; no spinal deformity; 1d-respiratory difficulty; difficulty chewing, constipation; regular rehabilitation; no intellectual disability, no seizures; raised serum CK highest 8m-2481 U/L; EMG myopathic changes, reduced motor nerve conduction velocity, reduced motor nerve compound muscle action potential amplitude; MRI brain 2y-abnormal white matter hyperintensities; dislocation hip
Diagnosis/Initial	congenital muscular dystrophy
Diagnosis/Definite	MDC1A
Inheritance	Familial, autosomal recessive
Age/Examination	12.6y
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	muscle weakness, hypotonia, 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