Phenotype #0000343389

Individual ID	00454770
Associated disease	MYOP
Phenotype details	delayed motor milestones, 20m-assisted stand, 2y6m-walk; progression relatively stable through childhood; walk around school, able to run (but slowly, climb stairs with railings; generalised weakness, ptosis, facial diplegia, no neck flexor weakness; absent reflexes LL, reduced reflexes UL; no contracture, hypermobile at ankles; mild lumbar lordosis, no scoliosis; generalised muscle wasting, thin muscle bulk; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria; birth short-term nasogastric tube feeds; no respiratory support, forced vital capacity 1.22 L (0.57), forced expiratory volume in 1s 1.20 (0.62), normal sleep study; exercise intolerance with fatigue; 38y-muscle biopsy deltoid type 1 myofiber predominance, few centralised nuclei, occasional hypertrophic myofibers present and scattered hypotrophic type 2 myofibers, mild focal fibrosis, no myofiber degeneration or regeneration, nor abnormalities in NADH-SDH oxidative reactions; EMG slightly reduced triads, occasional small minicore-like foci
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	10y-20y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-26 09:29:23 +02:00 (CEST)
Date last edited	N/A