Autosomal recessive spastic paraplegia type 5A

disorder

SNOMED 763373005CUI C1849115

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Increased reflexes

Always present (100%)HP:0001347

Spastic walk

Always present (100%)HP:0002064

Distal sensory loss, especially vibratory sense

Very frequent (80-99%)HP:0002166

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Impaired vibratory sensation

Very frequent (80-99%)HP:0002495

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Spasticity of lower limb

Very frequent (80-99%)HP:0002061

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Ankle clonus

Frequent (30-79%)HP:0011448

Cerebellar signs

Frequent (30-79%)HP:0001317

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Lower limb amyotrophy

Frequent (30-79%)HP:0007210

Pes cavus

Frequent (30-79%)HP:0001761

Urinary incontinence

Frequent (30-79%)HP:0000020

Appendicular ataxia

Occasional (5-29%)HP:0002070

Degeneration of the spinal cord

Occasional (5-29%)HP:0006827

Instability or lack of coordination of central trunk muscles

Occasional (5-29%)HP:0002078

Intellectual impairment

Occasional (5-29%)HP:0100543

Lens opacities

Occasional (5-29%)HP:0000518

Postural tremor

Occasional (5-29%)HP:0002174

Uncoordinated limb movement

Occasional (5-29%)HP:0002406

Amyotrophy involving the upper limbs

Very rare (1-4%)HP:0009129

Deglutition disorder

Very rare (1-4%)HP:0002015

Difficulty articulating speech

Very rare (1-4%)HP:0001260

Involuntary, rapid, rhythmic eye movements

Very rare (1-4%)HP:0000639

Peripheral nerve disease

Very rare (1-4%)HP:0001271

Scoliosis

Very rare (1-4%)HP:0002650

Sensorineural deafness

Very rare (1-4%)HP:0000407

Related Conditions

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 763373005
UMLS CUI: C1849115
Fully Specified Name: Autosomal recessive spastic paraplegia type 5A (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.