Childhood-onset spasticity with hyperglycinaemia

disorder

SNOMED 773492007CUI C4225178

Overview

Childhood-onset spasticity with hyperglycinaemia 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.

Hyperglycinemia

Always present (100%)HP:0002154

Reduced tissue glycine cleavage enzyme activity

Always present (100%)HP:6000829

Nonketotic hyperglycinemia

Very frequent (80-99%)HP:0008288

Spasticity, progressive

Very frequent (80-99%)HP:0002191

Decreased activity of the pyruvate dehydrogenase complex

Frequent (30-79%)HP:0002928

Extensor plantar responses

Frequent (30-79%)HP:0003487

High glycine levels in cerebrospinal fluid

Frequent (30-79%)HP:0500230

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Leukodystrophy

Frequent (30-79%)HP:0002415

Loss of ability to walk in early childhood

Frequent (30-79%)HP:0008945

Optic atrophy

Frequent (30-79%)HP:0000648

Poor attention span

Frequent (30-79%)HP:0000736

Rigid dysarthria

Frequent (30-79%)HP:0002464

Spastic diparesis

Frequent (30-79%)HP:0001264

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Spinal cord lesion

Frequent (30-79%)HP:0100561

Unsteady walk

Frequent (30-79%)HP:0002317

Ataxia

Occasional (5-29%)HP:0001251

Feeding difficulties

Occasional (5-29%)HP:0011968

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Increased CSF lactic acid

Occasional (5-29%)HP:0002490

Irritable mood

Occasional (5-29%)HP:0000737

Jerking

Occasional (5-29%)HP:0001336

Loss of acquired milestones

Occasional (5-29%)HP:0002376

Left ventricular wall hypertrophy

Very rare (1-4%)HP:0001712

Corticospinal signs

HP:0007256

Difficulty articulating speech

HP:0001260

Epilepsy

HP:0001250

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Chronic metabolic disease(parent)

Chronic nervous system disease(parent)

Chronic musculoskeletal disorder(parent)

Disorder of glycine cleavage enzyme complex(parent)

Hereditary ataxia(parent)

Mitochondrial myopathy(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 773492007
UMLS CUI: C4225178
Fully Specified Name: Childhood-onset spasticity with hyperglycinemia (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.