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TK2-related mitochondrial DNA depletion syndrome myopathic form
disorderSNOMED 703527003CUI C3149750
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated circulating creatine phosphokinase
Always present (100%)HP:0003236
Generalised decreased muscle tone
Always present (100%)HP:0001290
Respiratory failure due to muscle weakness
Always present (100%)HP:0002747
Abnormal urinary amino-acid findings
HP:0003355
Abnormality of the basal ganglia
HP:0002134
Bilateral facial weakness
HP:0001349
Central hypotonia
HP:0001252
Cerebral atrophy
HP:0002059
Decreased activity of mitochondrial complex III
HP:0011924
Decreased activity of mitochondrial complex IV
HP:0008347
Delayed gross motor development
HP:0002194
Depletion of mitochondrial DNA in muscle tissue
HP:0009141
EMG: myopathic changes
HP:0003458
Epilepsy
HP:0001250
Hypoacusis
HP:0000365
Inability to walk
HP:0002540
Irritable mood
HP:0000737
Lacticacidemia
HP:0003128
Limb muscle weakness
HP:0003690
Loss of ability to walk in early childhood
HP:0008945
Low intelligence
HP:0001249
Muscle atrophy, generalised
HP:0003700
Positive Gower sign
HP:0003391
Ragged-red muscle fibers
HP:0003200
Respiratory complex deficiency, ATPase deficiency
HP:0011925
Respiratory complex I deficiency
HP:0011923
Quick Facts
- SNOMED CT
- 703527003
- UMLS CUI
- C3149750
- Fully Specified Name
- TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.