Phenotype #0000041471

Individual ID	00054811
Associated disease	ALS
Phenotype details	35y proximal muscle weakness, wasting upper limbs; neurological examination diffuse hyperreflexia, neurophysiological testing chronic and active denervation, motor evoked potentials demonstrated increased central conduction time both corticospinal tracts, presentation consistent with flail arm ALS variant; no evidence of cognitive impairment; developed respiratory failure, electively tracheotomised 25m after onset ALS; alive 42m after onset ALS
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	35y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-11-24 12:29:52 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD