Global Variome shared LOVD

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Phenotype #0000321843 Individual ID 00431238 Associated disease SPG Phenotype details still walking; delayed motor development; no cognitive deficits; moderate optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI cerebellar atrophy Diagnosis/Initial spastic paraplegia Inheritance Familial, autosomal recessive Diagnosis/Definite SPG85 Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 2y 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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