Phenotype #0000161756

Individual ID 00213281
Associated disease CMS
Phenotype details no family history; 7m-gastric tube feeding, jejunostomy, frequent respiratory failures (necessitated tracheostomyat 4m); 30m-treated for vagal hypertonia (severe respiratory failure with cardio respiratory arrest); never walked, axial hypotonia with weakness of cervical muscles and neede to hold her head with her hands; 8y-clear improvement with treatment, could stand up and take some steps alone, mechanical ventilation stopped; 9y-tracheostomy removed; wheelchair bound 7y
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset 0d-mechanical ventialtion (respiratory distress, bradycardia), generalized hypotonia, bilateral ptosis, arthrogryposis hands/feets, facial dysmorphia (elongated face, prognathia), not able to swallow, gastric tube feeding
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-11-05 12:10:31 +01:00 (CET)
Date last edited 2012-03-09 19:57:30 +01:00 (CET)

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