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Spinocerebellar ataxia type 25

disorder
SNOMED 718770005CUI C1837518

Overview

Spinocerebellar ataxia type 25 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
Decreased number of large and small myelinated fibres
Always present (100%)HP:0003380
Abolished vibration sense
Very frequent (80-99%)HP:0006944
Infratentorial atrophy
Very frequent (80-99%)HP:0001272
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Abnormal cerebellar cortex morphology
Frequent (30-79%)HP:0031422
Areflexia in lower limbs
Frequent (30-79%)HP:0002522
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Diffuse cerebellar atrophy
Frequent (30-79%)HP:0100275
EMG: neuropathic changes
Frequent (30-79%)HP:0003445
Extensor plantar responses
Frequent (30-79%)HP:0003487
Hypoacusis
Frequent (30-79%)HP:0000365
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Impaired pain sensation
Frequent (30-79%)HP:0007328
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Involuntary facial muscle spasms
Frequent (30-79%)HP:0011468
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Loss of distal sensation
Frequent (30-79%)HP:0002936
Loss of large myelinated fibres
Frequent (30-79%)HP:0003387
Overactive bladder syndrome
Frequent (30-79%)HP:0000012
Pes cavus
Frequent (30-79%)HP:0001761
Rigid dysarthria
Frequent (30-79%)HP:0002464
Sensory neuropathy
Frequent (30-79%)HP:0000763
Squint
Frequent (30-79%)HP:0000486
Cortical white matter abnormalities seen on MRI
Occasional (5-29%)HP:0002500
Defective or absent horizontal voluntary eye movements
Occasional (5-29%)HP:0000657
Intermittent abdominal pain
Occasional (5-29%)HP:0002574
Involuntary facial quivering
Occasional (5-29%)HP:0000317
Vomiting
Occasional (5-29%)HP:0002013
Decreased visual acuity
HP:0007663

Quick Facts

SNOMED CT
718770005
UMLS CUI
C1837518
Fully Specified Name
Spinocerebellar ataxia type 25 (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.