SCAR10 - autosomal recessive spinocerebellar ataxia type 10

disorder

SNOMED 785302009CUI C3150998

Overview

SCAR10 - autosomal recessive spinocerebellar ataxia type 10 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.

Hyperactive Achilles reflex

Always present (100%)HP:0033206

Inability to coordinate movements when walking

Always present (100%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Overactive knee reflex

Always present (100%)HP:0007083

Upper limb hyperreflexia

Always present (100%)HP:0007350

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Ankle clonus

Frequent (30-79%)HP:0011448

Appendicular ataxia

Frequent (30-79%)HP:0002070

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Downbeat nystagmus

Frequent (30-79%)HP:0010545

Dysmetric eye movements

Frequent (30-79%)HP:0000641

Eye drop

Frequent (30-79%)HP:0000508

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Hypermetric saccades

Frequent (30-79%)HP:0007338

Increased reflexes

Frequent (30-79%)HP:0001347

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Leg muscle stiffness

Frequent (30-79%)HP:0008969

Muscle fasciculation

Frequent (30-79%)HP:0002380

Pes cavus

Frequent (30-79%)HP:0001761

Pigmented macular degeneration

Frequent (30-79%)HP:0000608

Saccadic slow pursuit

Frequent (30-79%)HP:0001152

Slurred speech

Frequent (30-79%)HP:0001350

Cataract

Occasional (5-29%)HP:0000518

Cerebellar tremor

Occasional (5-29%)HP:0002080

Double vision

Occasional (5-29%)HP:0000651

Related Conditions

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Spinocerebellar ataxia(parent)

Chronic disorder of spinal cord(parent)

Quick Facts

SNOMED CT: 785302009
UMLS CUI: C3150998
Fully Specified Name: Adult-onset autosomal recessive cerebellar ataxia (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.