Fragile X associated tremor ataxia syndrome

disorder

SNOMED 448045004CUI C1839780

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.

Intellectual deterioration

Always present (100%)HP:0001268

Ataxia

Very frequent (80-99%)HP:0001251

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Gait disturbance

Very frequent (80-99%)HP:0001288

Inability to coordinate movements when walking

Very frequent (80-99%)HP:0002066

Inertia

Very frequent (80-99%)HP:0030216

Progressive dementia

Very frequent (80-99%)HP:0000726

Terminal tremor

Very frequent (80-99%)HP:0002080

Agitation

Frequent (30-79%)HP:0000713

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Depression

Frequent (30-79%)HP:0000716

Difficulty getting an erection

Frequent (30-79%)HP:0000802

Diffuse cerebellar atrophy

Frequent (30-79%)HP:0100275

Dysesthesia

Frequent (30-79%)HP:0012534

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Frequent urination

Frequent (30-79%)HP:0100515

Irritable mood

Frequent (30-79%)HP:0000737

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Muscle rigidity

Frequent (30-79%)HP:0002063

Muscle weakness

Frequent (30-79%)HP:0001324

OCD

Frequent (30-79%)HP:0000722

Postural instability

Frequent (30-79%)HP:0002172

Sphincter disturbances

Frequent (30-79%)HP:0002839

Ubiquitin-positive cerebral inclusion bodies

Frequent (30-79%)HP:0012083

Abnormality of brainstem morphology

Occasional (5-29%)HP:0002363

Deglutition disorder

Occasional (5-29%)HP:0002015

High blood pressure

Occasional (5-29%)HP:0000822

Hypotension

Occasional (5-29%)HP:0002615

Muscle pain

Occasional (5-29%)HP:0003326

Related Conditions

Degenerative disorder(parent)

System disorder of the nervous system(parent)

Cerebellar ataxia(parent)

Hereditary ataxia(parent)

X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT: 448045004
UMLS CUI: C1839780
Fully Specified Name: Fragile X associated tremor ataxia syndrome (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.