ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy

disorder

SNOMED 784343003CUI C1969645

Overview

ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy 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.

Ataxia

Always present (100%)HP:0001251

Increased reflexes

Very frequent (80-99%)HP:0001347

Small cerebellum

Very frequent (80-99%)HP:0001321

Spastic ataxia

Very frequent (80-99%)HP:0002497

Vermian atrophy

Very frequent (80-99%)HP:0006855

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysmetria

Frequent (30-79%)HP:0001310

Dystonic disease

Frequent (30-79%)HP:0001332

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Intellectual impairment

Frequent (30-79%)HP:0100543

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Lack of bladder control due to nervous system injury

Frequent (30-79%)HP:0000011

Leukoencephalopathy

Frequent (30-79%)HP:0002352

Loss of ambulation

Frequent (30-79%)HP:0002505

Mental retardation, mild

Frequent (30-79%)HP:0001256

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Rigid dysarthria

Frequent (30-79%)HP:0002464

Scoliosis

Frequent (30-79%)HP:0002650

Urinary urgency

Frequent (30-79%)HP:0000012

Bilateral nerve deafness

Occasional (5-29%)HP:0008619

Deafness

Occasional (5-29%)HP:0000365

Related Conditions

Hereditary ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Leukoencephalopathy(parent)

Cerebellar ataxia(parent)

Quick Facts

SNOMED CT: 784343003
UMLS CUI: C1969645
Fully Specified Name: Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.