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Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
disorderSNOMED 778048001CUI C4755299
Overview
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia 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.
Distal sensory loss, especially vibratory sense
Very frequent (80-99%)HP:0002166
Lower limb pain
Very frequent (80-99%)HP:0012514
Progressive spastic paraplegia
Very frequent (80-99%)HP:0007020
Axonal neuropathy
Frequent (30-79%)HP:0003477
Distal muscle weakness in lower limbs
Frequent (30-79%)HP:0009053
Gait disturbance
Frequent (30-79%)HP:0001288
Increased reflexes
Frequent (30-79%)HP:0001347
Spasticity of lower limb
Frequent (30-79%)HP:0002061
Cerebellar abnormality
Occasional (5-29%)HP:0001317
Corticospinal signs
Occasional (5-29%)HP:0007256
Diabetes mellitus
Occasional (5-29%)HP:0000819
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Extensor plantar responses
Occasional (5-29%)HP:0003487
Leg muscle stiffness
Occasional (5-29%)HP:0008969
Supraventricular arrhythmias
Occasional (5-29%)HP:0005115
Quick Facts
- SNOMED CT
- 778048001
- UMLS CUI
- C4755299
- Fully Specified Name
- Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.