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by mtarsi

Pain has a physical, psychologic, spiritual and cultural component. Individuals with mitochondrial disease report pain most commonly in the form of headaches, myalgias and neuropathy, and abdominal or chest pain. Cutaneous pain is also reported in association with Raynaud-like changes, especially in the distal extremities. Impaired function in the central nervous system may also cause pain that may be manifested in a number of different ways including painful myoclonus and spasms; impairment in the spino-thalamo-cortical system appears to be a major cause of central pain (Tanaka, 1997).

Jul 07, 2008 Comments: 0
by mtarsi

Hoarseness, caused by a change in vocal cord function, is generally benign and brief. Mitochondrial patients can become hoarse as they become tired since normal vocal cord function is energy-consuming. However, like patients with other neurologic conditions (such as multiple sclerosis and Parkinson disease), they may experience vocal cord paralysis.

Jul 07, 2008 Comments: 0
by mtarsi

Abnormalities in breathing patterns are described in advanced mitochondrial disease (Flaherty, 2001; O'Brien 1998; Piper, 1994). The development of such patterns is gradual and intermittent and may initially appear during periods of increased oxidative stress (e.g., infections, following significant exercise, or during significant emotional distress), resolving as the patient recovers. The patterns may become more permanent as the disease progresses.

Jul 07, 2008 Comments: 0
by mtarsi

Hearing impairment occurs commonly as part of the mitochondrial disease phenotype and may be present in up to half of all cases (Chinnery, 2000). It is usually due to cochlear or sensorineural hearing loss, though the source of concern may be even more central in origin when there is active brain involvement (Chinnery, 2006). However, in some patients and in those with some degree of immune dysfunction, recurrent ear infections may occur leading to a conductive hearing loss.

Jul 07, 2008 Comments: 0
by mtarsi

Vision is a very energy-dependent biologic function. The retina and optic nerve are particularly dependent on mitochondrial oxidative phosphorylation (Carelli, 2006). Defects in oxidative phosphorylation with disruption of ATP production can lead to retinal degeneration (Cooper, 2003) and abnormalities on electroretinography (Isashiki, 1998). The extraocular muscles also have a high content of mitochondria and a high metabolic rate (Carelli, 2006).

Jul 07, 2008 Comments: 0
by mtarsi

Like other organs, skin can show manifestations that are attributable to mitochondrial disorders and should be considered part of the broad spectrum of presenting symptoms (Birch-Machin, 2000) although the significance and incidence remain unclear (Bodemer, 1999).

Jul 07, 2008 Comments: 0
by mtarsi

Hematological issues are described in mitochondrial disease and include issues with bruising and bleeding, thrombotic stroke, anemia, and pancytopenia. The actual mechanisms are not well understood.

Bruising

Jul 07, 2008 Comments: 0
by mtarsi

After neurologic disease, endocrine dysfunction is perhaps the most common set of symptoms in adult patients with mitochondrial disease (Finsterer, 2001). The most common endocrinopathy in mitochondrial disease is diabetes mellitus. In fact, mtDNA abnormalities may account for up to 5% of all cases of diabetes. The most common mtDNA abnormality is associated with MELAS syndrome (3243A-G) (Kadowaki, 1994) typically in association with diabetes and sensorineural hearing loss.

Jul 07, 2008 Comments: 0
by mtarsi

Abnormalities in the urine can occur for one of several reasons:

ABNORMAL COLOR -

Jul 07, 2008 Comments: 0
by mtarsi

Bladder dysfunction or neurogenic bladder is noted in mitochondrial disease. This mirrors the gut dysmotility and constipation that occur commonly in this patient population (Zelnik, 1996; Axelrod, 2006). In both organs, smooth muscle weakness is presumed and autonomic innervation can be dysfunctional.

Jul 07, 2008 Comments: 0

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