Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome

disorder

SNOMED 1172588008CUI C5567451

Overview

Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome 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.

Distal muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Progressive encephalopathy

Very frequent (80-99%)HP:0002448

Spastic ataxia

Very frequent (80-99%)HP:0002497

Spinal muscle wasting

Very frequent (80-99%)HP:0007269

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Axonal neuropathy

Frequent (30-79%)HP:0003477

Difficulty articulating speech

Frequent (30-79%)HP:0001260

EMG: chronic denervation signs

Frequent (30-79%)HP:0003444

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Inability to heel walk

Frequent (30-79%)HP:0009027

Low intelligence

Frequent (30-79%)HP:0001249

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Psychomotor regression in infants

Frequent (30-79%)HP:0002376

Standing instability

Frequent (30-79%)HP:0003698

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Iron accumulation in substantia nigra

Occasional (5-29%)HP:0012678

Loss of articulate speech

Occasional (5-29%)HP:0002425

Optic atrophy

Occasional (5-29%)HP:0000648

Progressive spastic paraparesis

Occasional (5-29%)HP:0007199

Spastic tetraparesis

Occasional (5-29%)HP:0001285

Seizures

Very rare (1-4%)HP:0001250

Related Conditions

Distal spinal muscular atrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Progressive muscular atrophy(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 1172588008
UMLS CUI: C5567451
Fully Specified Name: Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.