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Understanding Mitochondrial Disease Essay

1426 words - 6 pages

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 ophthalmoplegia, ptosis, pigmentary retinopathy within retinal cells, or painless sequential loss of visual activity accompanied soon after by optic atrophy. Manifestations of mitochondrial disease among the skeletal muscle are obviously excessively prevalent. Symptoms of this type of mitochondrial disease can range from “nonspecific exercise intolerance or exercise-induced myalgia to muscle wasting or weakness in a predominantly proximal distribution;” all of which are worsened by inflammatory stress. Manifestations of cardiac mitochondrial disease vary from “cardiac conduction block to pre¬disposition to arrhythmia or development of Wolff-Parkinson-White syndrome.” A metabolic cardio¬myopathy may be correlated to cardiac diseases of a more serious form. Within the gastrointestinal system, smooth muscle tissue, the autonomic nervous system, and the enteral neural plexus could all possibly be victims of mitochondrial disease. This could actuate disorders of peristalsis within the gastrointestinal tract. Other expected symptoms consist of “delayed gastric emptying with nausea and vomiting, constipation, diarrhea, and intestinal pseudo-obstruc¬tion.” Due to affection of insulin secretion by the disease within the endocrine system,...

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