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Autosomal dominant spastic paraplegia type 31

disorder
SNOMED 763068005CUI C1853247

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.

Extensor plantar responses
Always present (100%)HP:0003487
Lower limb muscle weakness
Always present (100%)HP:0007340
Brisk deep tendon reflexes
Very frequent (80-99%)HP:0001348
Proximal muscle weakness in lower limbs
Very frequent (80-99%)HP:0008994
Spastic walk
Very frequent (80-99%)HP:0002064
Ankle clonus
Frequent (30-79%)HP:0011448
Cavus foot
Frequent (30-79%)HP:0001761
Difficulty running
Frequent (30-79%)HP:0009046
Gait disturbance
Frequent (30-79%)HP:0001288
Impaired proprioception
Frequent (30-79%)HP:0010831
Loss of distal sensation
Frequent (30-79%)HP:0002936
Lower limb hyperreflexia
Frequent (30-79%)HP:0002395
Proximal lower limb muscle atrophy
Frequent (30-79%)HP:0008956
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Upper limb hyperreflexia
Frequent (30-79%)HP:0007350
Bulbar signs
Occasional (5-29%)HP:0002483
Deglutition disorder
Occasional (5-29%)HP:0002015
Distal muscle atrophy, upper and lower limbs
Occasional (5-29%)HP:0003693
Hand muscle weakness
Occasional (5-29%)HP:0030237
Spastic tetraparesis
Occasional (5-29%)HP:0001285
Urgency frequency syndrome
Occasional (5-29%)HP:0000012
Difficulty articulating speech
HP:0001260
Increased reflexes
HP:0001347
Muscle degeneration
HP:0003202
Spastic paraplegia
HP:0001258
Spasticity of lower limb
HP:0002061

Quick Facts

SNOMED CT
763068005
UMLS CUI
C1853247
Fully Specified Name
Autosomal dominant spastic paraplegia type 31 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
26
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.