Autosomal recessive spastic paraplegia type 43

disorder

SNOMED 764736001CUI C2680446

Overview

Autosomal recessive spastic paraplegia type 43 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Loss of ambulation

Always present (100%)HP:0002505

Muscle weakness

Always present (100%)HP:0001324

Neuropathy

Always present (100%)HP:0009830

Distal muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Fine motor skill dysfunction

Very frequent (80-99%)HP:0007010

Gait disturbance

Very frequent (80-99%)HP:0001288

Spastic paraparesis

Very frequent (80-99%)HP:0002313

Spastic walk

Very frequent (80-99%)HP:0002064

Weakness of outermost muscles

Very frequent (80-99%)HP:0002460

Absent Achilles reflex

Frequent (30-79%)HP:0003438

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Flexion deformity of finger

Frequent (30-79%)HP:0012785

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Loss of distal sensation

Frequent (30-79%)HP:0002936

Optic atrophy

Frequent (30-79%)HP:0000648

Overactive knee reflex

Frequent (30-79%)HP:0007083

Pes cavus

Frequent (30-79%)HP:0001761

Difficulty articulating speech

HP:0001260

Inability to straighten knee

HP:0006380

Increased reflexes

HP:0001347

Spastic paraplegia

HP:0001258

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 764736001
UMLS CUI: C2680446
Fully Specified Name: Autosomal recessive spastic paraplegia type 43 (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.