Phenotype #0000357852

Individual ID 00473057
Associated disease NMD
Diagnosis/Initial neuromuscular disorder
Diagnosis/Definite -
Phenotype details onset 30y with muscle weakness and hypoesthesia, unilateral; Progressive dementia; Progressive gait disturbance; Parkinsonism; Quadriparesis; Wheelchair bound; Minimyoclonus; Dysarthria; Spasticity; EEG: Intermittent periodic slowing; Brain MRI: two UBOs at the posterior horn of lateral ventricle, also few tiny nonspecific bright signal intensity foci in periventricular subcortical white matter which could represent vasculitis, less likely possibility of tiny foci of demyelination.
Inheritance Familial, autosomal dominant
Age/Examination 34y (34 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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