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]
Treatment
Physicians seeking systematic treatments for their patients might consider testing urinary organic acids to determine how best to treat them. [ncbi.nlm.nih.gov]
Is there any treatment for mitochondrial disease? Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. [medicinenet.com]
Some of these diseases are very difficult to diagnose and provide any treatment besides palliative care. [perkins.org.au]
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]
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]
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]
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]
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. American Journal of Human Genetics 72, 333-339 (2003) Owens, K. N., et al. Genomic sequencing in the service of human rights. [nature.com]
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]
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]
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]
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]
"We have no way of curing these diseases at the moment, but this technique could allow us to prevent the diseases occurring in the first place. [theguardian.com]