Spectrin-associated autosomal recessive cerebellar ataxia

disorder

SNOMED 763351003CUI C4706415

Overview

Spectrin-associated autosomal recessive cerebellar ataxia 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.

Hypometric saccades

Always present (100%)HP:0000571

No development of motor milestones

Always present (100%)HP:0001270

Unsteady walk

Always present (100%)HP:0002317

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Abnormal finger chase test

Frequent (30-79%)HP:0001310

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Mental retardation, mild

Frequent (30-79%)HP:0001256

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Slurred speech

Frequent (30-79%)HP:0001350

Speech difficulties

Frequent (30-79%)HP:0000750

Double vision

Occasional (5-29%)HP:0000651

Dysmetric eye movements

Occasional (5-29%)HP:0000641

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Increased reflexes

Occasional (5-29%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Jerky ocular pursuit movements

Occasional (5-29%)HP:0008003

Squint

Occasional (5-29%)HP:0000486

Terminal tremor

Occasional (5-29%)HP:0002080

Inability to coordinate movements when walking

HP:0002066

Related Conditions

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Early onset cerebellar ataxia(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 763351003
UMLS CUI: C4706415
Fully Specified Name: Spectrin-associated autosomal recessive cerebellar ataxia (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.