Mitochondrial diseases

Introduction: Mitochondrial diseases

Mitochondrial diseases are very rare. However, they are very interesting because they are genetic diseases, and yet are very different to all other types of genetic disease. Surprisingly, there is actually DNA in the body that is not on any of the 46 chromosomes. This "other DNA" was discovered a long time ago but has only recently been linked to disease. Currently, mitochondrial DNA is an extremely active area of research. See also article Mitochondrial disorders.

Symptoms of Mitochondrial diseases

• Muscle weakness
• Muscle fatigue
• Muscle cramping
• Exercise intolerance
• Heart failure

See full list of 18 symptoms of Mitochondrial diseases

Medical Textbooks Online about Mitochondrial diseases

Book excerpts: Copyright © 2007 Lippincott Williams & Wilkins. All rights reserved.

Wrongly Diagnosed with Mitochondrial diseases?

• Misdiagnosis of Mitochondrial diseases

Causes of Mitochondrial diseases

Read more about causes of Mitochondrial diseases.

Treatments for Mitochondrial diseases

• Treatment depends on the particular disorder but may include:
• Physical therapy
• Riboflavin
• Coenzyme Q
• Vitamin C

See full list of 7 treatments for Mitochondrial diseases

Videos for Mitochondrial diseases

Patient Surveys for Mitochondrial diseases

• Patient Profile Survey
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• Survey about the symptoms of your Mitochondrial diseases
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Prognosis for Mitochondrial diseases

Prognosis for Mitochondrial diseases: The prognosis for patients with mitochondrial myopathies varies greatly from patient to patient because disease progression depends largely on the type of disease and the degree of involvement of various organs. (Source: excerpt from NINDS Mitochondrial Myopathies Information Page: NINDS)

More about prognosis of Mitochondrial diseases

Reseach about Mitochondrial diseases

Visit our research pages for current research about Mitochondrial diseases treatments.

Clinical Trials for Mitochondrial diseases

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Mitochondrial diseases include:

• RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease - This study has been terminated (Current: 23 Nov 2006) - RG2133 (2',3',5'-tri-O-acetyluridine)
• Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome - This study is no longer recruiting patients (Current: 23 Nov 2006) - Dichloroacetate
• Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia - This study is currently recruiting patients (Current: 23 Nov 2006)
• Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy - This study has been completed (Current: 23 Nov 2006) - thioctic acid
• Safety Study of Idebenone to Treat Friedreich's Ataxia - This study has been completed (Current: 23 Nov 2006) - Idebenone

See full list of 12 Clinical Trials for Mitochondrial diseases

Types of Mitochondrial diseases

• Leber's hereditary optic atrophy
• Kearns-Sayre Syndrome
• Progressive external ophthalmoplegia
• Myoclonus epilepsy
• MELAS

See full list of 7 Types of Mitochondrial diseases

Stories from Users Related to Mitochondrial diseases

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User Interactive Forums

Read about other experiences, ask a question about Mitochondrial diseases, or answer someone else's question, on our message boards:

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Article Excerpts about Mitochondrial diseases

Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria - small, energy-producing structures found in every cell in the body that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). (Source: excerpt from NINDS Mitochondrial Myopathies Information Page: NINDS)

Definitions of Mitochondrial diseases:

Mitochondrial diseases is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Mitochondrial diseases, or a subtype of Mitochondrial diseases, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)