Phenotype #0000321848

Individual ID	00431243
Associated disease	SPG
Phenotype details	still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal
Diagnosis/Initial	spastic paraplegia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG85
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-04 20:45:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD