Autosomal recessive spinocerebellar ataxia type 7

disorder

SNOMED 785301002CUI C1836474

Overview

Autosomal recessive spinocerebellar ataxia type 7 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

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Truncal titubation

Always present (100%)HP:0030147

Unsteady walk

Always present (100%)HP:0002317

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Appendicular ataxia

Frequent (30-79%)HP:0002070

Clumsiness

Frequent (30-79%)HP:0002312

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Double vision

Frequent (30-79%)HP:0000651

Dysmetric eye movements

Frequent (30-79%)HP:0000641

Explosive speech

Frequent (30-79%)HP:0002168

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Gait disturbance

Frequent (30-79%)HP:0001288

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Increased reflexes

Frequent (30-79%)HP:0001347

Saccadic slow pursuit

Frequent (30-79%)HP:0001152

Wide based walk

Frequent (30-79%)HP:0002136

Deglutition disorder

Occasional (5-29%)HP:0002015

EMG: neuropathic changes

Occasional (5-29%)HP:0003445

Hypermetric saccades

Occasional (5-29%)HP:0007338

Inability to coordinate movements when walking

Occasional (5-29%)HP:0002066

Overactive bladder

Occasional (5-29%)HP:0000012

Postural tremor

Occasional (5-29%)HP:0002174

Related Conditions

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Spinocerebellar ataxia(parent)

Chronic disorder of spinal cord(parent)

Quick Facts

SNOMED CT: 785301002
UMLS CUI: C1836474
Fully Specified Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.