Autosomal recessive spastic paraplegia type 78

disorder

SNOMED 1177168007CUI C5567893

Overview

Autosomal recessive spastic paraplegia type 78 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

Falls

Always present (100%)HP:0002527

Intellectual deterioration

Always present (100%)HP:0001268

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

EMG: axonal abnormality

Very frequent (80-99%)HP:0003482

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Gait ataxia, progressive

Very frequent (80-99%)HP:0007240

Gait disturbance

Very frequent (80-99%)HP:0001288

Increased reflexes

Very frequent (80-99%)HP:0001347

Infratentorial atrophy

Very frequent (80-99%)HP:0001272

Intellectual impairment

Very frequent (80-99%)HP:0100543

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Squint

Very frequent (80-99%)HP:0000486

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Corticospinal signs

Frequent (30-79%)HP:0007256

Divergent strabismus

Frequent (30-79%)HP:0020049

Dystonic disease

Frequent (30-79%)HP:0001332

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Lack of bladder control due to nervous system injury

Frequent (30-79%)HP:0000011

Loss of tactile sensation

Frequent (30-79%)HP:0010830

Peripheral sensory axonal neuropathy

Frequent (30-79%)HP:0003390

Pes cavus

Frequent (30-79%)HP:0001761

Progressive spastic quadriparesis

Frequent (30-79%)HP:0002478

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 1177168007
UMLS CUI: C5567893
Fully Specified Name: Autosomal recessive spastic paraplegia type 78 (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.