Mitochondrial myopathies facts*
*Mitochondiral myopathies facts medical author: Charles Patrick Davis, MD, PhD
- Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
- There is no specific treatment for mitochondrial diseases (myopathies).
- The prognosis varies according to the disease type; in general, these diseases are progressive and can cause death.
- Research into treatments and other disease aspects is ongoing; there are several organizations devoted to understanding and treating these relatively rare disorders.
What are mitochondrial myopathies?
Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures 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, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
What are the symptoms of mitochondrial myopathies?
The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.
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. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.
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. These disorders cause progressive weakness and can lead to death.
What research is being done for mitochondrial disease?
The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.
Organizations
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
[email protected]
http://www.mda.org
Tel: 520-529-2000
800-572-1717
Fax: 520-529-5300
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
[email protected]
http://www.umdf.org
Tel: 412-793-8077
888-317-UMDF (8633)
Fax: 412-793-6477
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
[email protected]
http://www.rarediseases.org
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
MitoAction
P.O. Box 51474
Boston, MA 02205
[email protected]
http://www.mitoaction.org
Tel: 888-648-6228
SLIDESHOW
Heart Disease: Causes of a Heart Attack See SlideshowHealth Solutions From Our Sponsors
Top Mitochondrial Disease Related Articles
Childhood Vaccination Schedule
Childhood immunizations can protect children from potentially deadly diseases. Vaccinations included on the childhood immunization schedule include Hib, polio, DTaP, MMR, HPV, flu, chickenpox, meningitis, rotavirus, pneumonia, hepatitis A, and hepatitis B.
Hearing Loss
Hearing loss (deafness) may be present at birth or it may manifest later in life. Deafness may be genetic or due to damage from noise. Treatment of deafness depends upon its cause. Sensorineural hearing loss can be caused by conditions affecting the:- cochlea,
- eighth cranial nerve,
- spinal cord, or
- brain.
- Meniere's disease,
- noise-induced hearing loss
- hearing loss of aging (presbycusis),
- nerve injury from syphilis,
- hearing loss of unknown cause (idiopathic hearing loss),
- nerve tumors, and
- drug toxicity (such as aspirin and aminoglycosides).
Dementia
Dementia is defined as a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are several different types of dementia, including cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Dementia Slideshow
What is dementia? Learn about dementia disorders such as Lewy Body Dementia, Alzheimer's disease (AD), Vascular (multi-infarct) dementia (MID), and more. Discover dementia stages, signs of dementia, causes, diagnosis, treatments, and medications.
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Headache
Headaches can be divided into two categories: primary headaches and secondary headaches. Migraine headaches, tension headaches, and cluster headaches are considered primary headaches. Secondary headaches are caused by disease. Headache symptoms vary with the headache type. Over-the-counter pain relievers provide short-term relief for most headaches.
Headaches in Children
Kids get headaches and migraines too. Many adults with headaches started having them as kids, in fact, 20% of adult headache sufferers say their headaches started before age 10, and 50% report their headaches started before age 20.
Heart Failure
Heart failure (congestive) is caused by many conditions including coronary artery disease, heart attack, cardiomyopathy, and conditions that overwork the heart. Symptoms of heart failure include
- congested lungs,
- fluid and water retention,
- dizziness,
- fatigue and weakness, and
- rapid or irregular heartbeats.
There are two types of congestive heart failure, systolic or left-sided heart failure; and diastolic or right-sided heart failure. Treatment, prognosis, and life-expectancy for a person with congestive heart failure depends upon the stage of the disease.
MELAS Syndrome
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Mutations in the genetic material (DNA) in the mitochondria cause MELAS syndrome. Symptoms of MELAS include:- brain dysfunction (encephalopathy) with seizures and headaches,
- muscle disease with lactic acid build-up in the blood,
- temporary local paralysis,
- and abnormal thinking (dementia).
Nausea and Vomiting (Causes, Natural Remedies, Diet, Medication)
Nausea is an uneasiness of the stomach that often precedes vomiting. Nausea and vomiting are not diseases, but they are symptoms of many conditions. There are numerous cases of nausea and vomiting. Some causes may not require medical treatment, for example, motion sickness, and other causes may require medical treatment by a doctor, for example, heart attack, lung infections, bronchitis, and pneumonia.
Some causes of nausea and vomiting may be life threatening, for example, heart attack, abdominal obstruction, and cancers.
Treatment of nausea and vomiting depends upon the cause.
Seizure (Epilepsy)
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.