Phenotype #0000358694

Individual ID	00473899
Associated disease	motor neuron disease
Diagnosis/Initial	motor neuron disease
Diagnosis/Definite	-
Phenotype details	onset 38y with lower muscle weakness; Decreased muscle force in lower limbs; Muscle cramp; Gait abnormality; EMG-NCV: active denervation and chronic neurogenic changes in upper and extremity muscles. Fasciculation and fibrillation in tongue and neurogenic MUPs in abdominal muscles; probably due to motor neuron disease.
Inheritance	Familial, autosomal dominant
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
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