Phenotype #0000319038

Individual ID	00428101
Associated disease	SCA
Phenotype details	see paper; ..., spinocerebellar ataxia, graduated from junior high school; 47y-slowly progressive dysarthria/gait disturbance; pathological saccadic dysmetria, saccadic intrusions into smooth pursuit eye movements, dysarthria, limb/truncal ataxia; wide-based gait, did not require a walking stick; normal limb muscle strength; deep tendon reflexes normal/slightly reduced, pathological reflexes absent; mildly impaired vibration sense lower limbs; no urinary dysfunction; MRI brain cerebellar atrophy without brainstem involvement
Diagnosis/Initial	spinocerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA27
Age/Examination	62y (62 years)
Age/Diagnosis	-
Age/Onset	47y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 16:23:01 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD