Spinocerebellar ataxia type 42

disorder

SNOMED 1208513005CUI C4225205

Overview

Spinocerebellar ataxia type 42 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

Cerebellar signs

Very frequent (80-99%)HP:0001317

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Neurodevelopmental abnormality

Very frequent (80-99%)HP:0012759

Unsteady walk

Very frequent (80-99%)HP:0002317

Decreased vibration sense in feet

Frequent (30-79%)HP:0006938

Deglutition disorder

Frequent (30-79%)HP:0002015

Depression

Frequent (30-79%)HP:0000716

Extensor plantar responses

Frequent (30-79%)HP:0003487

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Myokymia orbicularis

Frequent (30-79%)HP:0031166

Nystagmus, horizontal, gaze-evoked

Frequent (30-79%)HP:0007979

Overactive bladder syndrome

Frequent (30-79%)HP:0000012

Saccadic slow pursuit

Frequent (30-79%)HP:0001152

Spastic walk

Frequent (30-79%)HP:0002064

Vermian atrophy

Frequent (30-79%)HP:0006855

Brainstem atrophy

Occasional (5-29%)HP:0007366

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Difficulty getting an erection

Occasional (5-29%)HP:0000802

Dizziness

Occasional (5-29%)HP:0002321

Double vision

Occasional (5-29%)HP:0000651

Head tremor

Occasional (5-29%)HP:0002346

Hyperintensity of cerebral white matter on MRI

Occasional (5-29%)HP:0030890

Hypometric saccades

Occasional (5-29%)HP:0000571

Increased reflexes

Occasional (5-29%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Late-onset form of familial Alzheimer disease

Occasional (5-29%)HP:0002511

Psoriasis

Occasional (5-29%)HP:0003765

Reduced brain N-acetyl aspartate level by MRS

Occasional (5-29%)HP:0012708

Related Conditions

Autosomal dominant hereditary disorder(parent)

Spinocerebellar ataxia(parent)

Chronic brain syndrome(parent)

Chronic disorder of spinal cord(parent)

Quick Facts

SNOMED CT: 1208513005
UMLS CUI: C4225205
Fully Specified Name: Spinocerebellar ataxia type 42 (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.