Spinocerebellar ataxia type 17

disorder

SNOMED 719249005CUI C1846707

Overview

Spinocerebellar ataxia type 17 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.

Progressive dementia

Always present (100%)HP:0000726

Ataxia

Very frequent (80-99%)HP:0001251

Gait disturbance

Very frequent (80-99%)HP:0001288

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Behavioral changes

Frequent (30-79%)HP:0000708

Brainstem atrophy

Frequent (30-79%)HP:0007366

Cerebellar Purkinje layer atrophy

Frequent (30-79%)HP:0012082

Choreatic disease

Frequent (30-79%)HP:0002072

Corticospinal signs

Frequent (30-79%)HP:0007256

Dystonic disease

Frequent (30-79%)HP:0001332

Generalized cerebral degeneration/underdevelopment

Frequent (30-79%)HP:0007058

Intellectual deterioration

Frequent (30-79%)HP:0001268

Involuntary closure of eyelid

Frequent (30-79%)HP:0000643

Involuntary movements

Frequent (30-79%)HP:0004305

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Muscle rigidity

Frequent (30-79%)HP:0002063

Parkinsonian disease

Frequent (30-79%)HP:0001300

Spasmodic torticollis

Frequent (30-79%)HP:0000473

Writer's cramp

Frequent (30-79%)HP:0002356

Appendicular ataxia

HP:0002070

Apraxia

HP:0002186

Cerebellar tremor

HP:0002080

Confusion

HP:0001289

Deglutition disorder

HP:0002015

Depressive episode

HP:0000716

Difficulty articulating speech

HP:0001260

Diffuse cerebral atrophy

HP:0002506

Dysmetria

HP:0001310

Excess astrocytes in brain

HP:0002171

Frontal lobe dementia

HP:0000727

Related Conditions

Autosomal dominant hereditary disorder(parent)

Spinocerebellar ataxia(parent)

Quick Facts

SNOMED CT: 719249005
UMLS CUI: C1846707
Fully Specified Name: Spinocerebellar ataxia type 17 (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.