Understanding Mitochondrial Disease

Some symptoms of mitochondrial diseases are subtle while others are lifelong and easily noticable. Mitochondrial disease can either be adult-onset or child-onset; usually childhood mitochondrial disease is more astringent “and includes progressive neurological, cardiac, and liver dysfunction.” An expansive array of symptoms may be apparent in childhood mitochondrial disease, “including lethargy, hypotonia, failure to thrive, seizures, cardiomyopathy, deafness, blindness, movement disorder, and lactic acidosis.” On the other hand, most patients with mitochondrial disease do not display very discernible symptoms. Most recognizable symptoms can usually be attributed to other causes; however, further analysis may lead to mitochondrial mutations being the definitive cause, especially these symptoms within the following systems. Mitochondrial diseases of the central nervous system or the peripheral nervous system usually show the stereotypical childhood symptoms, such as “developmental delay or regression, seizures, and movement disorders.” In adult-onset mitochondrial disease, symptoms would instead involve stroke or stroke-like episodes. Symptomatic or nonsymptomatic peripheral neuropathy may be revealed upon “phys¬ical examination or through nerve conduction studies.” Due to mitochondrial maladies within the auditory system, sensorineural deafness due to cochlear dysfunction and dysfunction of mitochondria within cranial nerve VIII may occur. Because ocular muscles contain the “highest density of mitochondria per cell of any type of muscle and thus use large amounts of adenosine triphosphate, mitochondrial disease within the ocular system are rather abundant. Symptoms of these ocular syndromes include progressive external ophthalmop...

... middle of paper ...

...G, Yolanda Lillquist, MD, FRCPC. "Mitochondrial Disease Clinical Manifestations: An Overview." British Columbia Medical Journal 53.4 (2011): 183-87. BC Medical Journal. Web. 18 Apr. 2014. .

Sirrs, Sandra, MD, FRCPC, Margaret O'Riley, RN, MA, Lorne Clark, MDCM, FRCPC,

FCCMG, and Andre Mattman, MD, FRCPC. "Primer on Mitochondrial Disease: Biochemistry, Genetics, and Epidemiology." British Columbia Medical Journal 53.4 (2011): 172-76. BC Medical Journal. Web. 18 Apr. 2014. .

"What Is Mitochondrial Disease?" What Is Mitochondrial Disease. United Mitochondrial

Disease Foundation, n.d. Web. 19 Apr. 2014. .