ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay

disorder

SNOMED 702445005CUI C1849140

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Overactive knee reflex

Always present (100%)HP:0007083

Peroneal muscle atrophy

Always present (100%)HP:0009049

Pontine T2 hypointensity

Always present (100%)HP:4000169

Spastic walk

Always present (100%)HP:0002064

Vermian atrophy

Always present (100%)HP:0006855

Decreased motor nerve conduction velocity

Very frequent (80-99%)HP:0003431

Abnormal motor evoked potentials

Frequent (30-79%)HP:0012896

Abnormal pons morphology

Frequent (30-79%)HP:0007361

Abnormality of the cerebellar peduncle

Frequent (30-79%)HP:0011931

Ataxia

Frequent (30-79%)HP:0001251

Cavus foot

Frequent (30-79%)HP:0001761

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Corticospinal signs

Frequent (30-79%)HP:0007256

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysmetria

Frequent (30-79%)HP:0001310

Extensor plantar responses

Frequent (30-79%)HP:0003487

Fluid-filled sac located in membrane surrounding brain or spinal cord

Frequent (30-79%)HP:0100702

Gait disturbance

Frequent (30-79%)HP:0001288

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Muscle weakness

Frequent (30-79%)HP:0001324

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Neuropathy

Frequent (30-79%)HP:0009830

Nystagmus, horizontal, gaze-evoked

Frequent (30-79%)HP:0007979

Overactive bladder

Frequent (30-79%)HP:0000012

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 702445005
UMLS CUI: C1849140
Fully Specified Name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (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.