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Spinocerebellar ataxia type 6

disorder
SNOMED 715752006CUI C0752124

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.

Infratentorial atrophy
Always present (100%)HP:0001272
Ataxia
Very frequent (80-99%)HP:0001251
Bradyopsia
Very frequent (80-99%)HP:0030511
Imbalance
Very frequent (80-99%)HP:0002172
Inability to coordinate movements when walking
Very frequent (80-99%)HP:0002066
Incoordination
Very frequent (80-99%)HP:0002311
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Nystagmus, horizontal, gaze-evoked
Very frequent (80-99%)HP:0007979
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Slurred speech
Very frequent (80-99%)HP:0001350
Terminal tremor
Very frequent (80-99%)HP:0002080
Unsteady walk
Very frequent (80-99%)HP:0002317
Abnormality of vision
Frequent (30-79%)HP:0000504
Choking episodes
Frequent (30-79%)HP:0030842
Deglutition disorder
Frequent (30-79%)HP:0002015
Double vision
Frequent (30-79%)HP:0000651
Extensor plantar responses
Frequent (30-79%)HP:0003487
Increased reflexes
Frequent (30-79%)HP:0001347
Migraine without aura
Frequent (30-79%)HP:0002083
Nausea and vomiting
Frequent (30-79%)HP:0002017
Vertical nystagmus
Frequent (30-79%)HP:0010544
Vertigo
Frequent (30-79%)HP:0002321
Abnormal finger-nose-finger test
Occasional (5-29%)HP:0001310
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Dystonic movements
Occasional (5-29%)HP:0001332
Frequent falls
Occasional (5-29%)HP:0002359
Instability or lack of coordination of central trunk muscles
Occasional (5-29%)HP:0002078
Involuntary closure of eyelid
Occasional (5-29%)HP:0000643
Loss of ambulation
Occasional (5-29%)HP:0002505

Quick Facts

SNOMED CT
715752006
UMLS CUI
C0752124
Fully Specified Name
Spinocerebellar ataxia type 6 (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.