Global Variome shared LOVD

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Phenotype #0000321847 Individual ID 00431242 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 17y (17 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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