Myopathy with deficiency of succinate dehydrogenase and aconitase

disorder

SNOMED 699268002CUI C1850718

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.

Absent tendon reflexes

Always present (100%)HP:0001284

Bilateral ptosis

Always present (100%)HP:0001488

Central hypotonia

Always present (100%)HP:0001252

Decreased activity of mitochondrial complex I

Always present (100%)HP:0011923

Decreased activity of mitochondrial complex II

Always present (100%)HP:0008314

Decreased activity of mitochondrial complex III

Always present (100%)HP:0011924

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Decreased haemoglobin

Always present (100%)HP:0001903

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Extraocular muscle palsy

Always present (100%)HP:0000597

Frequent falls

Always present (100%)HP:0002359

Gait disturbance

Always present (100%)HP:0001288

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Leukopenia

Always present (100%)HP:0001882

Muscle degeneration

Always present (100%)HP:0003202

Poor exercise tolerance

Always present (100%)HP:0003546

Tired easily

Always present (100%)HP:0003388

Weakness of outermost muscles

Always present (100%)HP:0002460

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Abnormal iron deposition in mitochondria

HP:0008306

Difficulty breathing

HP:0002094

Hypersideremic anemia

HP:0001924

Increased blood lactate

HP:0002151

Increased intramyocellular lipid droplets

HP:0012240

Lacticacidemia

HP:0003128

Mitochondrial myopathy

HP:0003737

Muscle spasm

HP:0003394

Muscle weakness

HP:0001324

Myoglobinuria

HP:0002913

Myopathy

HP:0003198

Related Conditions

Disease of skeletal muscle(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 699268002
UMLS CUI: C1850718
Fully Specified Name: Myopathy with deficiency of iron-sulfur cluster assembly enzyme (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.