Phenotype #0000357848

Individual ID	00473053
Associated disease	CMS
Phenotype details	onset 18y with lower muscle weakness; Generalized muscle weakness due to the defect at the neuromuscular junction, proximal>distal; Lordosis; Hand tremor; Waddling gait; Mild respiratory insufficiency due to muscle weakness; Weakness aggravated by exertion; Positive Hx of SLE since 12y ago; Bone densitometry: osteoporotic at the levels of L1-L4 spine & femur neck; Muscle biopsy: suggestive of disuse, steroid myopathy; EMG-NCV: compatible with synaptic or post-synaptic neuromuscular junction disorder.
Diagnosis/Initial	congenital myasthenic syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD