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Spinocerebellar ataxia type 36

disorder
SNOMED 711158005CUI C3472711

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.

Atrophic cerebellum
Always present (100%)HP:0001272
Increased reflexes
Always present (100%)HP:0001347
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Appendicular ataxia
Very frequent (80-99%)HP:0002070
Ataxia
Very frequent (80-99%)HP:0001251
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Hearing impairment
Very frequent (80-99%)HP:0000365
Instability or lack of coordination of central trunk muscles
Very frequent (80-99%)HP:0002078
Blurred vision
Frequent (30-79%)HP:0000622
Dysmetria
Frequent (30-79%)HP:0001310
Extensor plantar responses
Frequent (30-79%)HP:0003487
Gait disturbance
Frequent (30-79%)HP:0001288
Loss of Purkinje cells in the cerebellar vermis
Frequent (30-79%)HP:0007001
Muscle atrophy, neurogenic
Frequent (30-79%)HP:0003202
Muscle fasciculation
Frequent (30-79%)HP:0002380
Muscle weakness
Frequent (30-79%)HP:0001324
Slow visual tracking
Frequent (30-79%)HP:0000514
Tongue fasciculations/fibrillations
Frequent (30-79%)HP:0001308
Wasting of the tongue
Frequent (30-79%)HP:0012473
Eye drop
Occasional (5-29%)HP:0000508
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Vertical gaze palsy
Occasional (5-29%)HP:0000511
Anal incontinence
Very rare (1-4%)HP:0002607
Childhood attention deficit/hyperactivity disorder
Very rare (1-4%)HP:0007018
Deglutition disorder
Very rare (1-4%)HP:0002015
Double vision
Very rare (1-4%)HP:0000651
Head tremor
Very rare (1-4%)HP:0002346
Intermittent migraine headaches
Very rare (1-4%)HP:0002076
Myoclonus of limbs
Very rare (1-4%)HP:0045084

Quick Facts

SNOMED CT
711158005
UMLS CUI
C3472711
Fully Specified Name
Spinocerebellar ataxia type 36 (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.