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Mitochondrial Disease


Presentation

  • This article presents an in-depth discussion of a case involving a nearly 10-year-old boy with a history of an unspecified form of MD, who presented for endodontic treatment of tooth No. 30 under deep sedation.[ncbi.nlm.nih.gov]
  • Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.[ncbi.nlm.nih.gov]
  • Mitochondrial disorders usually present with neurological symptoms or with myopathic features at any age.[ncbi.nlm.nih.gov]
  • This paper presents a novel case of adolescent-onset DNM1L-related intractable epilepsy and encephalopathy.[ncbi.nlm.nih.gov]
  • Mitochondrial diseases, or encephalomyopathies, are an uncommon, heterogeneous group of disorders with variable clinical course and presentation.[ncbi.nlm.nih.gov]
Turkish
  • The 10 patients come from seven unrelated families of UK-Caucasian, UK-Pakistani, UK-Indian, Turkish and Iraqi origin.[ncbi.nlm.nih.gov]
Death in Childhood
  • Mitochondrial disease has been uncommon conditions, still results in death during childhood in many cases. The ideal anesthetic pharmacological management strategy for adult patients with mitochondrial disease is currently unclear.[ncbi.nlm.nih.gov]
Flatulence
  • Seventy-nine carriers (86%) suffered from at least one gastrointestinal symptom, mainly flatulence or hard stools. Both frequency and severity of symptoms were significantly increased compared with reference data of healthy Dutch adults.[ncbi.nlm.nih.gov]
Gowers Sign
  • Clinical conditions worsened, including ptosis, progressive weakness, and positive Gowers' sign. Oral glucose lactate stimulation test was positive, therefore a muscle biopsy was performed at 11 years of age.[ncbi.nlm.nih.gov]
Tic Disorder
  • KEYWORDS: Ataxia; Choreoathetosis; Mitochondrial disease; Movement disorders; Myoclonus; Parkinsonism; Restless leg syndrome; Spasticity; Tic disorders; Tremor[ncbi.nlm.nih.gov]
Tonic-Clonic Seizure
  • From the age of 66 years, he developed tonic-clonic seizures. Electrocardiography loop recording showed some losses of consciousness as associated with supraventricular tachycardias and others with epileptic activity or arterial hypotension.[ncbi.nlm.nih.gov]
Behavior Problem
  • Many children exhibited clinically significant levels of behavioral problems, whereas mothers of children with mitochondrial diseases exhibited significant increases in parenting stress relative to mothers of healthy children.[ncbi.nlm.nih.gov]

Workup

Myocardial Fibrosis
  • Plasma norepinephrine was the unique predictor of myocardial fibrosis at univariate analysis (P 0.05).[ncbi.nlm.nih.gov]

Treatment

  • Both mechanism and treatment for pulmonary hypertension complicated with mitochondrial disease are unclear. Further study is necessary.[ncbi.nlm.nih.gov]
  • Specific treatments do not exist for the majority of mitochondrial diseases, but it is likely that the intense research that currently exists for these diseases will eventually produce effective treatment possibilities.[ncbi.nlm.nih.gov]
  • Physicians seeking systematic treatments for their patients might consider testing urinary organic acids to determine how best to treat them.[ncbi.nlm.nih.gov]
  • United Mitochondrial Disease Foundation To promote research for the cure and treatment, and to provide support to families.[curlie.org]
  • This includes PGD, which is currently offered as a clinical treatment but will not be suitable for all.[ncbi.nlm.nih.gov]

Prognosis

  • What is the prognosis for mitochondrial disease? The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs.[medicinenet.com]
  • The diagnostic journey may be characterized by heightened levels of uncertainty due to the delayed diagnosis and the absence of a clear prognosis, among other factors.[ncbi.nlm.nih.gov]
  • Meet other parents and patients in our closed Facebook group. back to top What is the Prognosis for Someone? The prognosis is variable. Some people live a normal life and are minimally affected; others can be severely compromised with the disease.[mitoaction.org]
  • PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example).[childneurologyfoundation.org]

Etiology

  • Sensory ataxic neuropathy may be the predominant and presenting manifestation of a mitochondrial disorder, and a mitochondrial etiology should be included in its differential diagnosis.[ncbi.nlm.nih.gov]
  • In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct.[ncbi.nlm.nih.gov]
  • OBJECTIVE: To describe the phenotype, genetic etiology, and investigation of extrapyramidal movement disorders in a large and well-defined mitochondrial disease cohort.[ncbi.nlm.nih.gov]
  • Transplant teams should be aware of mitochondrial disease as an etiology for organ-failure and consider appropriate consultation in patients without a known cause of their symptoms. Copyright 2016 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • However, most other etiologies are due to one or more deficiencies in Complexes I – V of the respiratory chain that ultimately reduce molecular oxygen to water and synthesize ATP from ADP and inorganic phosphate.[aasmnet.org]

Epidemiology

  • The stage has now been reached at which there is a good understanding of both the genetic basis of the disease and its epidemiology, but just how the blindness that follows from the death of cells in the optic nerve can be prevented remains to be a pharmacological[ncbi.nlm.nih.gov]
  • The epidemiology of Leber hereditary optic neuropathy in the north east of England. Am. J. Hum. Genet. 72, 333–339 (2003) 10. Taylor, R. W. & Turnbull, D. M. Mitochondrial DNA mutations in human disease. Nature Rev. Genet. 6, 389–402 (2005) 11.[doi.org]
  • The epidemiology of Leber hereditary optic neuropathy in the North East of England. American Journal of Human Genetics 72, 333-339 (2003) Owens, K. N., et al. Genomic sequencing in the service of human rights.[nature.com]
  • Recent epidemiological studies indicate a population prevalence of ASD in about one in 166 children [2] and of mitochondrial disease in about one in 5–10,000 children [30], [31].[journals.plos.org]
  • Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am. J. Hum. Genet. 63, 447–454 (1998) 12. Taylor, R. W. & Turnbull, D. M.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • We report on the anaesthetic management of a paediatric patient with mitochondrial disease, and briefly discuss the pathophysiology and anaesthetic implications of these disorders.[ncbi.nlm.nih.gov]
  • The pathophysiology of gastrointestinal involvement in mitochondrial disease is discussed and emerging treatments are described. Finally, we provide a checklist of investigations for the gastroenterologist when mitochondrial disease is suspected.[ncbi.nlm.nih.gov]
  • The value of a multifaceted approach in unravelling the pathophysiology of mitochondrial diseases is emphasised.[ncbi.nlm.nih.gov]
  • […] strokes, neuropathic pain, Parkinson's disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and primary biliary cirrhosis, have underlying pathophysiological[ncbi.nlm.nih.gov]
  • However, only a few cases have been reported in the literature and there is still a limited amount of information about the symptomatology and pathophysiology associated with pathogenic variants of DNM1L.[ncbi.nlm.nih.gov]

Prevention

  • In this review, we will interrogate the different NT techniques, including a discussion on the available safety and efficacy data of these technologies for mtDNA disease prevention.[ncbi.nlm.nih.gov]
  • However, the primary purpose of this review is to describe the recent advances related to the diagnosis, genetic basis, and prevention of mitochondrial disease, highlighting the newly described disease genes and the evolving methodologies aimed at preventing[ncbi.nlm.nih.gov]
  • Mitochondrial DNA is transmitted maternally and it has been proposed that nuclear transfer techniques may be an approach for the prevention of transmission of human mtDNA disease.[ncbi.nlm.nih.gov]
  • Photograph: Neil Harding/Getty Families at risk of passing on devastating genetic diseases to their children should be allowed to have a ground-breaking but controversial IVF procedure involving biological material from three “parents” to prevent the[theguardian.com]
  • Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined.[ncbi.nlm.nih.gov]

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