Phenotype #0000314425

Individual ID	00423221
Associated disease	MYOP
Phenotype details	diaphragmatic weakness with dyspnea; rigid spine; onset respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset; dyspnea, patient on non-invasive respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 500-700 u/l
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	28y
Phenotype/Onset	respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-11 16:44:18 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD