Phenotype #0000321840

Individual ID 00431235
Associated disease SPG
Phenotype details 20y-loss ambulation; normal motor development; no cognitive deficits; mild optic atrophy; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; no ataxia; mild cervical dystonia; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; 30y-lower limbs no cortical potential
Diagnosis/Initial spastic paraplegia
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPG85
Age/Examination 53y (53 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
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 2023-02-04 20:45:33 +01:00 (CET)
Date last edited N/A

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