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Cardiology2393 papers

Dystonia

Last edited: 4/23/2026

Overview

Dystonia is a movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. It can be primary or secondary to various underlying conditions, including mitochondrial disorders 1 2 15.

Diagnosis

Clinical Presentation: Presence of sustained or intermittent muscle contractions causing twisting and repetitive movements or abnormal postures 15.

Neuroimaging: MRI may show characteristic changes, particularly in cases associated with mitochondrial disorders 2 18.

EEG: Useful in identifying status epilepticus in mitochondrial disease contexts 2.

Genetic Testing: Essential for identifying mitochondrial DNA mutations or nuclear gene defects 3 4 13 14 22 26 46 47.

Biochemical Markers: Elevated neurofilament light chain and circulating cell-free mitochondrial DNA may aid in diagnosing mitochondrial disorders 1.

Management

Botulinum Toxin: Effective for focal dystonias, particularly facial hyperkinetic disorders 6.

Deep Brain Stimulation (DBS): Beneficial for reducing pain and improving motor function in severe cases, including children with dystonia and dyskinetic cerebral palsy 41.

Pharmacotherapy: Anticholinergics, muscle relaxants, and benzodiazepines may be used symptomatically 15.

Supportive Care: Physical therapy, occupational therapy, and psychological support are crucial 15.

Management of Comorbidities: Addressing associated conditions like hypertension, depression, and cardiac dysfunction 44 50 53.

Special Populations

Pediatrics: Early identification and genetic counseling are vital 3 22 46.

Elderly: Focus on managing comorbidities and optimizing quality of life with multidisciplinary care 15.

Comorbidities: Special attention to cardiac involvement, particularly in mitochondrial disorders 9 29 44.

Key Recommendations

Genetic Testing for mitochondrial DNA mutations and nuclear gene defects is essential for diagnosis and family planning 3 13 22[Evidence: Strong]

Botulinum Toxin is recommended for symptomatic relief in focal dystonias 6[Evidence: Moderate]

Deep Brain Stimulation should be considered for severe cases with significant motor impairment and pain 41[Evidence: Moderate]

Multidisciplinary Approach including physical, occupational therapy, and psychological support is crucial for comprehensive management 15[Evidence: Expert opinion]

Monitoring for Comorbidities such as hypertension and cardiac dysfunction is necessary, especially in mitochondrial disorders 44[Evidence: Moderate]

References

Showing 100 most recent of 514 indexed papers.

1 Maresca A, Moresco M, Amore G, La Morgia C, Valentino ML, Capirossi G et al.. Biomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA. Molecular genetics and metabolism 2026. link 2 Damiano M, Lambrecq V, Nguyen-Michel VH, Marois C, Rucheton B, Mochel F et al.. EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases. Journal of neurology 2026. link 3 Wang J, Song M, Liu Z, Xu C, Zou Y, Duan X et al.. Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders. Clinical genetics 2026. link 4 Selamioglu A, Altun MA, Bliven K, Ünverengil G, Güneş D, Karaca M et al.. Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review. American journal of medical genetics. Part A 2026. link 5 Acikgoz NB, Demir GU, Yildiz Y, Duz MB, Sener N, Alpat S et al.. Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease. American journal of medical genetics. Part A 2026. link 6 Lara-Barrera PD, Tovilla-Canales JL, Olvera-Morales O, Castillo-Pérez EG, Nava-Castañeda Á. Experience of the application of botulinum toxin type A as a treatment of facial hyperkinetic disorders in a Mexican ophthalmological center. Archivos de la Sociedad Espanola de Oftalmologia 2025. link 7 Heo Y, Lee SJ, Kim TS. Delayed Pulsatile Tinnitus by an Ascending Pharyngeal Artery-Internal Jugular Vein Fistula Caused by Blunt Trauma: A Case Report and Review of the Literature. Ear, nose, & throat journal 2025. link 8 Popovic M, Isermann L, Geißen S, Senft K, Georgomanolis T, Baldus S et al.. Tissue-specific adaptations to cytochrome c oxidase deficiency shape physiological outcomes. Biochimica et biophysica acta. Molecular basis of disease 2025. link 9 Ganesh J, Donnelly C, Ligezka A, Preston G, Morava E, Breilyn M et al.. Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction. Molecular genetics and metabolism 2025. link 10 Aliaga L, Bavolek RA, Cooper B, Mariorenzi A, Ahn J, Kraut A et al.. Error Management Training and Adaptive Expertise in Learning Computed Tomography Interpretation: A Randomized Clinical Trial. JAMA network open 2024. link 11 Yoon J, Park JO, Song H, Lee CA, Wang SJ, Park HA. Efficacy and safety of ketamine alone and ketamine-dexmedetomidine combination for sedation for brain computed tomography in paediatric patients with head injuries: A retrospective study. Emergency medicine Australasia : EMA 2024. link 12 Değerliyurt A, Gülleroğlu NB, Kibar Gül AE. Primary CoQ. The International journal of neuroscience 2024. link 13 Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF et al.. Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Human molecular genetics 2024. link 14 Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S et al.. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Molecular genetics and metabolism 2023. link 15 Chinnery PF. Mitochondrial disease in neurology-Past, present, and future. Handbook of clinical neurology 2023. link 16 Rao AL, Song L, Griffin G. Head Injuries and Emergencies in Sports. Clinics in sports medicine 2023. link 17 Roze E. Early identification of children with myoclonus-dystonia: Is it time for a revision of diagnostic criteria?. Developmental medicine and child neurology 2023. link 18 Offergeld C, Hofauer B, Poxleitner P, Lagrèze W, Schnell O, Petersen N et al.. [Traumatology-an interdisciplinary task: exclusively for educational purposes?]. HNO 2023. link 19 Fowler FA, Yabumoto C, Osaki MH, Gameiro GR, Brabo JL, Matayoshi S et al.. Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil. Arquivos brasileiros de oftalmologia 2023. link 20 Burger RK, Figueroa J, Parikh AK, Riedesel EL. Impact of a Faster Computed Tomography Scanner on Sedation for Pediatric Head Computed Tomography Scans in 2 Large Emergency Departments-A Retrospective Study. Pediatric emergency care 2023. link 21 Majtan T, Kožich V, Kruger WD. Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria. British journal of pharmacology 2023. link 22 Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M et al.. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of medical genetics 2023. link 23 Kucherov V, Truong H, Raab C, Hagerty JA. Urologic Presentations and Management Options in Pediatric Mitochondrial Disease. Urology 2022. link 24 Li Y, Zhang Y, Jiang G, Wang Y, He C, Zhao X et al.. Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome. Medicine 2022. link 25 Usman S. Management of Head and Neck Injuries by the Sideline Physician. American family physician 2022. link 26 Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ et al.. Clinical and subclinical findings in heterozygous . Journal of medical genetics 2022. link 27 Shiomura R, Tara S, Ito N, Watanabe M, Arai T, Kobayashi N et al.. Hemodynamic Collapse Caused by Cardiac Dysfunction and Abdominal Compartment Syndrome in a Patient with Mitochondrial Disease. Internal medicine (Tokyo, Japan) 2022. link 28 Tong HF, Lee HH, Tong TT, Lam SF, Sheng B, Chan KW et al.. Neurological manifestations in m.3243A>G-related disease triggered by metformin. Journal of diabetes and its complications 2022. link 29 Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A et al.. Cardiac Outcomes in Adults With Mitochondrial Diseases. Journal of the American College of Cardiology 2022. link 30 Medina Escobar A, Pringsheim T, Goodarzi Z, Martino D. The prevalence of depression in adult onset idiopathic dystonia: Systematic review and metaanalysis. Neuroscience and biobehavioral reviews 2021. link 31 Shih RY, Burns J, Ajam AA, Broder JS, Chakraborty S, Kendi AT et al.. ACR Appropriateness Criteria® Head Trauma: 2021 Update. Journal of the American College of Radiology : JACR 2021. link 32 Babl FE, Tavender E, Ballard DW, Borland ML, Oakley E, Cotterell E et al.. Australian and New Zealand Guideline for Mild to Moderate Head Injuries in Children. Emergency medicine Australasia : EMA 2021. link 33 Tarka S. A response to Letter to the Editor titled: Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal. Folia neuropathologica 2021. link 34 Velasco R, Moore CM, Deiratany S, D'Elia F, Tourteau LB, Zuiani C et al.. Variability in the management and imaging use in paediatric minor head trauma in European emergency departments. A Research in European Pediatric Emergency Medicine study. European journal of emergency medicine : official journal of the European Society for Emergency Medicine 2021. link 35 Burger RK, Figueroa J, McCracken C, Mallory MD, Kamat PP. Sedatives used in children to obtain head CT in the emergency department. The American journal of emergency medicine 2021. link 36 Neeraja K, Prasad S, Surisetti BK, Holla VV, Sharma D, Kamble N et al.. Cervical Myeloradiculopathy and Atlantoaxial Instability in Cervical Dystonia. World neurosurgery 2021. link 37 Marques RSF, Antunes C, Machado MJ, Ramos R, Duarte N, Oliveira L et al.. Reappraising the need for a control CT in mild head injury patients on anticoagulation. European journal of trauma and emergency surgery : official publication of the European Trauma Society 2021. link 38 O'Rourke B, Ashok D, Liu T. Mitochondrial Ca. Journal of molecular and cellular cardiology 2021. link 39 Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC et al.. Fatal perinatal mitochondrial cardiac failure caused by recurrent . Med (New York, N.Y.) 2021. link 40 Basel D. Mitochondrial DNA Depletion Syndromes. Clinics in perinatology 2020. link 41 Perides S, Lin JP, Lee G, Gimeno H, Lumsden DE, Ashkan K et al.. Deep brain stimulation reduces pain in children with dystonia, including in dyskinetic cerebral palsy. Developmental medicine and child neurology 2020. link 42 Rizowy GM, Poloni S, Colonetti K, Donis KC, Dobbler PT, Leistner-Segal S et al.. Is the gut microbiota dysbiotic in patients with classical homocystinuria?. Biochimie 2020. link 43 Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M et al.. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. American journal of human genetics 2020. link 44 Chong-Nguyen C, Stalens C, Goursot Y, Bougouin W, Stojkovic T, Béhin A et al.. A high prevalence of arterial hypertension in patients with mitochondrial diseases. Journal of inherited metabolic disease 2020. link 45 Liu G, Shen X, Sun Y, Lv Q, Li Y, Du A. Heteroplasmy and phenotype spectrum of the mitochondrial tRNA. Journal of the neurological sciences 2020. link 46 Deng J, Lu Y, Xie Z, Liu J, Yuan Y, Wang Z. RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS. Biochemical and biophysical research communications 2020. link 47 Woods JJ, Wilson JJ. Inhibitors of the mitochondrial calcium uniporter for the treatment of disease. Current opinion in chemical biology 2020. link 48 Finsterer J, Zarrouk-Mahjoub S. The heart in m.3243A>G carriers. Herz 2020. link 49 Newman H, Angus-Leppan H. Dealer's Dytonia (Croupier's Cramp) - An Unusual Hazard Of Gambling. Acute medicine 2019. link 50 Agrahari AK, Krishna Priya M, Praveen Kumar M, Tayubi IA, Siva R, Prabhu Christopher B et al.. Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis. Computers in biology and medicine 2019. link 51 Iodice A, Pisani F. Status dystonicus: management and prevention in children at high risk. Acta bio-medica : Atenei Parmensis 2019. link 52 Johnson SC, Martinez F, Bitto A, Gonzalez B, Tazaerslan C, Cohen C et al.. mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases. Kidney international 2019. link 53 Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K et al.. Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatric blood & cancer 2019. link 54 St-Pierre G, Steinberg C, Dubois M, Sénéchal M. What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?. The Canadian journal of cardiology 2019. link 55 O'Brien WT, Caré MM, Leach JL. Pediatric Emergencies: Imaging of Pediatric Head Trauma. Seminars in ultrasound, CT, and MR 2018. link 56 Torres RJ, Puig JG. GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease. International journal of rheumatic diseases 2018. link 57 Homme JJL. Pediatric Minor Head Injury 2.0: Moving from Injury Exclusion to Risk Stratification. Emergency medicine clinics of North America 2018. link 58 Bilyk JR, Yen MT, Bradley EA, Wladis EJ, Mawn LA. Chemodenervation for the Treatment of Facial Dystonia: A Report by the American Academy of Ophthalmology. Ophthalmology 2018. link 59 Echaniz-Laguna A, Mourot-Cottet R, Noel E, Chanson JB. Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. BMJ case reports 2018. link 60 Mohd Shukoor NS, Mohd Tamrin SB, Guan NY, Mohd Suadi Nata DH. Development of new hard hat dimensions using user-centered design approach among oil palm harvesters. Work (Reading, Mass.) 2018. link 61 O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A et al.. The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular genetics and metabolism 2018. link 62 Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP et al.. The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs. Biochimica et biophysica acta. Molecular basis of disease 2018. link 63 Monheit GD, Pickett A. AbobotulinumtoxinA: A 25-Year History. Aesthetic surgery journal 2017. link 64 Gordon TR, Montandon RJ. Anesthetic Management of a Child With Unspecified Mitochondrial Disease in an Outpatient Dental Setting. Anesthesia progress 2017. link 65 Maciejczyk M, Mikoluc B, Pietrucha B, Heropolitanska-Pliszka E, Pac M, Motkowski R et al.. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. Redox biology 2017. link 66 Hentschel F, Dressler D, Abele M, Paus S. Impaired heart rate variability in cervical dystonia is associated to depression. Journal of neural transmission (Vienna, Austria : 1996) 2017. link 67 Bacalhau M, Pratas J, Simões M, Mendes C, Ribeiro C, Santos MJ et al.. In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. European journal of medical genetics 2017. link 68 . Treatment and management of head injury in children. Nursing children and young people 2016. link 69 Strand JJ, Feely MA, Kramer NM, Moeschler SM, Swetz KM. Palliative Sedation and What Constitutes Active Dying: A Case of Severe Progressive Dystonia and Intractable Pain. The American journal of hospice & palliative care 2016. link 70 Ilan O, Syed MI, Aziza E, Pothier DD, Rutka JA. Olfactory and cochleovestibular dysfunction after head injury in the workplace: an updated series. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2016. link 71 Colangelo A, Abada A, Haws C, Park J, Niemeläinen R, Gross DP. Word Memory Test Predicts Recovery in Claimants With Work-Related Head Injury. Archives of physical medicine and rehabilitation 2016. link 72 Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P et al.. Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations. Human molecular genetics 2016. link 73 Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S et al.. Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population. Journal of neurology 2016. link 74 Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M et al.. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of medical genetics 2016. link 75 Turnbull DM, Rustin P. Genetic and biochemical intricacy shapes mitochondrial cytopathies. Neurobiology of disease 2016. link 76 Mayorga L, Laurito SR, Loos MA, Eiroa HD, de Pinho S, Lubieniecki F et al.. Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 2016. link 77 Djordjevic D, Brady L, Bai R, Tarnopolsky MA. Two novel mitochondrial tRNA mutations, A7495G (tRNA. Mitochondrion 2016. link 78 McClelland G, Pennington E, Byers S, Russell W, Lecky F. The challenges of conducting prehospital research: successes and lessons learnt from the Head Injury Transportation Straight to Neurosurgery (HITS-NS) trial. Emergency medicine journal : EMJ 2015. link 79 Melnick ER, Shafer K, Rodulfo N, Shi J, Hess EP, Wears RL et al.. Understanding Overuse of Computed Tomography for Minor Head Injury in the Emergency Department: A Triangulated Qualitative Study. Academic emergency medicine : official journal of the Society for Academic Emergency Medicine 2015. link 80 Thiam DW, Yap SH, Chong SL. Clinical Decision Rules for Paediatric Minor Head Injury: Are CT Scans a Necessary Evil?. Annals of the Academy of Medicine, Singapore 2015. link 81 Thomas M, Salpietro V, Canham N, Ruggieri M, Phadke R, Kinali M. Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis. Journal of child neurology 2015. link 82 Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O et al.. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. European journal of human genetics : EJHG 2015. link 83 Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J et al.. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Human molecular genetics 2015. link 84 Wang DH, Kostyun RO, Solomito MJ. The Biomechanics of Cranial Forces During Figure Skating Spinning Elements. Connecticut medicine 2015. link 85 Goldwasser T, Bressan S, Oakley E, Arpone M, Babl FE. Use of sedation in children receiving computed tomography after head injuries. European journal of emergency medicine : official journal of the European Society for Emergency Medicine 2015. link 86 Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C et al.. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. European journal of human genetics : EJHG 2015. link 87 Lu YH, Cheng LM, Huang YH, Lo MY, Wu TJ, Lin HY et al.. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. Clinical nutrition (Edinburgh, Scotland) 2015. link 88 Kukke SN, de Campos AC, Damiano D, Alter KE, Patronas N, Hallett M. Cortical activation and inter-hemispheric sensorimotor coherence in individuals with arm dystonia due to childhood stroke. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2015. link 89 McCann BJ, Tuppen HA, Küsters B, Lammens M, Smeitink JA, Taylor RW et al.. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy. Neuromuscular disorders : NMD 2015. link 90 Buyukkaya A, Buyukkaya R, Özel MA, Sarıtas A. Colloid cyst mimicking intracranial hemorrhage after head trauma. The American journal of emergency medicine 2015. link 91 Karaa A, Goldstein A. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes. Pediatric diabetes 2015. link 92 Metodiev MD, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C et al.. Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. European journal of human genetics : EJHG 2015. link 93 Kabunga P, Lau AK, Phan K, Puranik R, Liang C, Davis RL et al.. Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. International journal of cardiology 2015. link 94 Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD et al.. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney international 2015. link 95 Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV et al.. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Journal of inherited metabolic disease 2015. link 96 Vestergaard V, Astrand R, Romner B. A survey of the management of paediatric minor head injury. Acta neurologica Scandinavica 2014. link 97 Allen NM, Lin JP, Lynch T, King MD. Status dystonicus: a practice guide. Developmental medicine and child neurology 2014. link 98 Snaith A, Wade D. Dystonia. BMJ clinical evidence 2014. link 99 Hidalgo Mazzei D, Martín Rodriguez S, Pérez Moltó H, Ruíz Izquierdo J, Baeza I. A forgotten lethal psychosis: a case report. European child & adolescent psychiatry 2014. link 100 Cohn B, Keim SM, Sanders AB. Can anticoagulated patients be discharged home safely from the emergency department after minor head injury?. The Journal of emergency medicine 2014. link

Original source

[1]
Biomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA. — Maresca A, Moresco M, Amore G, La Morgia C, Valentino ML, Capirossi G et al. Molecular genetics and metabolism (2026)
[2]
EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases. — Damiano M, Lambrecq V, Nguyen-Michel VH, Marois C, Rucheton B, Mochel F et al. Journal of neurology (2026)
[3]
Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders. — Wang J, Song M, Liu Z, Xu C, Zou Y, Duan X et al. Clinical genetics (2026)
[4]
Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review. — Selamioglu A, Altun MA, Bliven K, Ünverengil G, Güneş D, Karaca M et al. American journal of medical genetics. Part A (2026)
[5]
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease. — Acikgoz NB, Demir GU, Yildiz Y, Duz MB, Sener N, Alpat S et al. American journal of medical genetics. Part A (2026)
[6]
Experience of the application of botulinum toxin type A as a treatment of facial hyperkinetic disorders in a Mexican ophthalmological center. — Lara-Barrera PD, Tovilla-Canales JL, Olvera-Morales O, Castillo-Pérez EG, Nava-Castañeda Á Archivos de la Sociedad Espanola de Oftalmologia (2025)
[7]
Delayed Pulsatile Tinnitus by an Ascending Pharyngeal Artery-Internal Jugular Vein Fistula Caused by Blunt Trauma: A Case Report and Review of the Literature. — Heo Y, Lee SJ, Kim TS Ear, nose, & throat journal (2025)
[8]
Tissue-specific adaptations to cytochrome c oxidase deficiency shape physiological outcomes. — Popovic M, Isermann L, Geißen S, Senft K, Georgomanolis T, Baldus S et al. Biochimica et biophysica acta. Molecular basis of disease (2025)
[9]
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction. — Ganesh J, Donnelly C, Ligezka A, Preston G, Morava E, Breilyn M et al. Molecular genetics and metabolism (2025)
[10]
Error Management Training and Adaptive Expertise in Learning Computed Tomography Interpretation: A Randomized Clinical Trial. — Aliaga L, Bavolek RA, Cooper B, Mariorenzi A, Ahn J, Kraut A et al. JAMA network open (2024)
[11]
Efficacy and safety of ketamine alone and ketamine-dexmedetomidine combination for sedation for brain computed tomography in paediatric patients with head injuries: A retrospective study. — Yoon J, Park JO, Song H, Lee CA, Wang SJ, Park HA Emergency medicine Australasia : EMA (2024)
[12]
Primary CoQ — Değerliyurt A, Gülleroğlu NB, Kibar Gül AE The International journal of neuroscience (2024)
[13]
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. — Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF et al. Human molecular genetics (2024)
[14]
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. — Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S et al. Molecular genetics and metabolism (2023)
[15]
Mitochondrial disease in neurology-Past, present, and future. — Chinnery PF Handbook of clinical neurology (2023)
[16]
Head Injuries and Emergencies in Sports. — Rao AL, Song L, Griffin G Clinics in sports medicine (2023)
[17]
Early identification of children with myoclonus-dystonia: Is it time for a revision of diagnostic criteria? — Roze E Developmental medicine and child neurology (2023)
[18]
[Traumatology-an interdisciplinary task: exclusively for educational purposes?]. — Offergeld C, Hofauer B, Poxleitner P, Lagrèze W, Schnell O, Petersen N et al. HNO (2023)
[19]
Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil. — Fowler FA, Yabumoto C, Osaki MH, Gameiro GR, Brabo JL, Matayoshi S et al. Arquivos brasileiros de oftalmologia (2023)
[20]
Impact of a Faster Computed Tomography Scanner on Sedation for Pediatric Head Computed Tomography Scans in 2 Large Emergency Departments-A Retrospective Study. — Burger RK, Figueroa J, Parikh AK, Riedesel EL Pediatric emergency care (2023)
[21]
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria. — Majtan T, Kožich V, Kruger WD British journal of pharmacology (2023)
[22]
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. — Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M et al. Journal of medical genetics (2023)
[23]
Urologic Presentations and Management Options in Pediatric Mitochondrial Disease. — Kucherov V, Truong H, Raab C, Hagerty JA Urology (2022)
[24]
Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome. — Li Y, Zhang Y, Jiang G, Wang Y, He C, Zhao X et al. Medicine (2022)
[25]
Management of Head and Neck Injuries by the Sideline Physician. — Usman S American family physician (2022)
[26]
Clinical and subclinical findings in heterozygous — Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ et al. Journal of medical genetics (2022)
[27]
Hemodynamic Collapse Caused by Cardiac Dysfunction and Abdominal Compartment Syndrome in a Patient with Mitochondrial Disease. — Shiomura R, Tara S, Ito N, Watanabe M, Arai T, Kobayashi N et al. Internal medicine (Tokyo, Japan) (2022)
[28]
Neurological manifestations in m.3243A>G-related disease triggered by metformin. — Tong HF, Lee HH, Tong TT, Lam SF, Sheng B, Chan KW et al. Journal of diabetes and its complications (2022)
[29]
Cardiac Outcomes in Adults With Mitochondrial Diseases. — Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A et al. Journal of the American College of Cardiology (2022)
[30]
The prevalence of depression in adult onset idiopathic dystonia: Systematic review and metaanalysis. — Medina Escobar A, Pringsheim T, Goodarzi Z, Martino D Neuroscience and biobehavioral reviews (2021)
[31]
ACR Appropriateness Criteria® Head Trauma: 2021 Update. — Shih RY, Burns J, Ajam AA, Broder JS, Chakraborty S, Kendi AT et al. Journal of the American College of Radiology : JACR (2021)
[32]
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