Juvenile amyotrophic lateral sclerosis type 2

disorder

SNOMED 1201947005CUI C1859807

Overview

Juvenile amyotrophic lateral sclerosis type 2 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.

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Abnormal vocalization

Frequent (30-79%)HP:0002167

Arc de cercle

Frequent (30-79%)HP:0002179

Arm dystonia

Frequent (30-79%)HP:0031960

Ataxia

Frequent (30-79%)HP:0001251

Clonus

Frequent (30-79%)HP:0002169

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dystonic disease

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised dystonia

Frequent (30-79%)HP:0007325

Head titubation

Frequent (30-79%)HP:0002599

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Limb joint contracture

Frequent (30-79%)HP:0003121

Loss of articulate speech

Frequent (30-79%)HP:0002425

Lower limb muscle hypotrophy

Frequent (30-79%)HP:0008944

Muscle degeneration

Frequent (30-79%)HP:0003202

Muscle weakness

Frequent (30-79%)HP:0001324

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Retrocollis

Frequent (30-79%)HP:0002544

Spastic diparesis

Frequent (30-79%)HP:0001264

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Urinary incontinence

Frequent (30-79%)HP:0000020

Walking on tiptoes

Frequent (30-79%)HP:0030051

Weakness of outermost muscles

Frequent (30-79%)HP:0002460

Abnormal exteroceptive sensation

Excluded (<1%)HP:0033747

Related Conditions

Juvenile amyotrophic lateral sclerosis(parent)

Quick Facts

SNOMED CT: 1201947005
UMLS CUI: C1859807
Fully Specified Name: Juvenile amyotrophic lateral sclerosis type 2 (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.