MDA leads the search for treatments and therapies for mitochondrial myopathies. The Association also provides comprehensive supports and expert clinical care for those living with mitochondrial myopathies.
In this section, you’ll find up-to-date information about mitochondrial myopathies, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
This disease information center covers nine of the most common types of mitochondrial myopathies and encephalomyopathies:
As you learn more about mitochondrial myopathies, always remember that you’re not alone. MDA is here for you and your family, standing ready to provide help and hope. There is a place for you in the MDA mitochondrial myopathy community.
MDA provides support by:
Once you sign up with your local MDA office , you’ll begin receiving MDA’s quarterly Quest  magazine, where you’ll find news about research and health care, helpful products and devices, social and family issues, and more.
In addition, MDA will keep you informed through e-alerts, educational publications and speakers, seminars, videos and newsletters.
Please know that there’s a role for you in the fight against mitochondrial myopathies. The MDA community is strong and dedicated, with opportunities for involvement at all levels, such as:
Please know that there’s an important role for every member of the mitochondrial myopathy community. We urge you to contact your local MDA office  to learn more.
A mitochondrial myopathy diagnosis doesn’t mean an end to your hopes and dreams. Changes, challenges and adaptations lay ahead, but also opportunity, fulfillment, joy and hope for a future free of mitochondrial myopathies.
Never forget that MDA is here to help.
Just as some diseases are named for the part of the body they affect (like heart disease), mitochondrial diseases are so named because they affect a specific part of the cells in the body. Specifically, mitochondrial diseases affect the mitochondria — tiny energy factories found inside almost all our cells.
A mitochondrial disease that causes prominent muscular problems is called a mitochondrial myopathy (myo means muscle, and pathos means disease), while a mitochondrial disease that causes both prominent muscular and neurological problems is called a mitochondrial encephalomyopathy (encephalo refers to the brain). See Types of Mitochondrial Myopathies  for more on nine specific mitochondrial diseases.
Muscular and neurological problems — such as muscle weakness, exercise intolerance, hearing loss, trouble with balance and coordination, seizures and learning deficits — are common features of mitochondrial disease, because muscle cells and nerve cells have especially high energy needs. Other frequent complications include impaired vision, heart defects, diabetes and stunted growth.
Usually, a person with a mitochondrial disease has two or more of these conditions, some of which occur together so regularly that they’re grouped into syndromes. For more, see the diagram to the right and Signs and Symptoms .
The main problems associated with mitochondrial disease — low energy, free radical production and lactic acidosis — can result in a variety of symptoms in many different organs of the body.
The diagram to the right depicts common symptoms of mitochondrial disease. Most affected people have some, but not necessarily all, of these problems.
Mitochondrial myopathies are caused by mutations, or changes, in genes — the cells' blueprint for making proteins. They are inheritable, although they can occur with no family history, and they often affect members of the same family in different ways. For more, see Causes/Inheritance .
The age of onset and progression of mitochondrial myopathy varies greatly from type to type. Please see Types of Mitochondrial Myopathies  for more information about the course of each disease.
MDA-funded scientists have identified many of the genetic defects that cause mitochondrial diseases, and they’ve used that knowledge to create animal models of many of them. Understanding the genetic defects that cause mitochondrial myopathies opens up the possibility of developing treatments for these diseases. See Research  for more.
Onset: Before age 20
Symptoms: This disorder is defined by PEO and pigmentary retinopathy, a “salt-and-pepper” pigmentation in the retina that can affect vision, but often leaves it intact. Other common symptoms include conduction block (in the heart) and ataxia. Less typical symptoms are mental retardation or deterioration, delayed sexual maturation and short stature.
Back to top 
Symptoms: Leigh syndrome causes brain abnormalities that can result in ataxia, seizures, impaired vision and hearing, developmental delays and altered control over breathing. It also causes muscle weakness, with prominent effects on swallowing, speech and eye movements.
Back to top 
Symptoms: This disorder typically causes muscle weakness and/or liver failure, and more rarely, brain abnormalities. “Floppiness,” feeding difficulties and developmental delays are common symptoms; PEO and seizures are less common.
Back to top 
Onset: Childhood to early adulthood
Symptoms: MELAS causes recurrent strokelike episodes in the brain, migraine-type headaches, vomiting and seizures, and can lead to permanent brain damage. Other common symptoms include PEO, general muscle weakness, exercise intolerance, hearing loss, diabetes and short stature.
Back to top 
Onset: Usually before age 20
Symptoms: This disorder causes PEO, ptosis (droopy eyelids), limb weakness and gastrointestinal (digestive) problems, including chronic diarrhea and abdominal pain. Another common symptom is peripheral neuropathy (a malfunction of the nerves that can lead to sensory impairment and muscle weakness).
Back to top 
Onset: Late childhood to adolescence
Symptoms: The most prominent symptoms are myoclonus (muscle jerks), seizures, ataxia and muscle weakness. The disease also can cause hearing impairment and short stature.
Back to top 
Onset: Infancy to adulthood
Symptoms: NARP causes neuropathy (a malfunction of the nerves that can lead to sensory impairment and muscle weakness), ataxia and retinitis pigmentosa (degeneration of the retina in the eye, with resulting loss of vision). It also can cause developmental delay, seizures and dementia.
Back to top 
Symptoms: This syndrome causes severe anemia and malfunction of the pancreas. Children who survive the disease usually go on to develop Kearns-Sayre syndrome.
Back to top 
Onset: Usually in adolescence or early adulthood
Symptoms: PEO — the gradual paralysis of eye movements — is often a symptom of mitochondrial disease, but sometimes it stands out as a distinct syndrome. It’s frequently associated with exercise intolerance.
Back to top 
Sometimes these diseases can cause significant weakness in the muscles that support breathing. Mitochondrial encephalomyopathies also may cause brain abnormalities that alter the brain’s control over breathing.
Sometimes, mitochondrial diseases directly affect the heart. In these cases, the usual cause is an interruption in the rhythmic beating of the heart, called a conduction block. Cardiac muscle damage also may occur.
Some people with mitochondrial disease experience serious kidney problems, gastrointestinal problems and/or diabetes. Some of these problems are direct effects of mitochondrial defects in the kidneys, digestive system or pancreas (in diabetes), and others are indirect effects of mitochondrial defects in other tissues.
For example, rhabdomyolysis (acute muscle breakdown) can lead to kidney problems by causing a protein called myoglobin to leak from ruptured muscle cells into the urine. This condition, myoglobinuria, stresses the kidneys’ ability to filter waste from the blood and can cause kidney damage.
Progressive external ophthalmoplegia (PEO), and drooping of the upper eyelids, called ptosis, typically cause only mild visual impairment in adults, they’re potentially more harmful in children with mitochondrial myopathies.
Because the development of the brain is sensitive to childhood experiences, PEO or ptosis during childhood can sometimes cause permanent damage to the brain’s visual system.
Due to muscle weakness, brain abnormalities or a combination of both, children with mitochondrial diseases may have developmental delays. For example, they might take an unusually long time to reach motor milestones such as sitting, crawling and walking. As they get older, they may be unable to get around as easily as other children their age, and may have speech problems and/or learning disabilities.
Back to top 
The main symptoms of mitochondrial myopathy are muscle weakness and atrophy (shrinking), and exercise intolerance. It’s important to remember that these symptoms vary greatly from one person to the next, even in the same family.
In some individuals, weakness is most prominent in muscles that control movements of the eyes and eyelids. Two common consequences are the gradual paralysis of eye movements, PEO and ptosis.
Mitochondrial myopathies also can cause weakness and atrophy in other muscles of the face and neck, which can lead to slurred speech and difficulty with swallowing. Sometimes, people with mitochondrial myopathies experience loss of muscle strength in the arms or legs.
These diseases also can cause significant weakness in the muscles that support breathing.
Exercise intolerance, also called exertional fatigue, refers to unusual feelings of exhaustion brought on by physical exertion. The degree of exercise intolerance varies greatly among individuals. Some people might only have trouble with athletic activities like jogging, while others might experience problems with everyday activities like walking to the mailbox or lifting a milk carton.
Sometimes, exercise intolerance is associated with painful muscle cramps and/or injury-induced pain. The cramps are actually sharp contractions that can seem to temporarily lock the muscles. Injury-induced pain is caused by a process of acute muscle breakdown called rhabdomyolysis, leading to leakage of myoglobin from the muscles into the urine (myoglobinuria). Cramps or myoglobinuria usually occur when someone with exercise intolerance “overdoes it,” and can happen during the overexertion or several hours afterward.
Back to top 
A mitochondrial encephalomyopathy typically includes some of the above-mentioned symptoms of myopathy (muscle disease) plus one or more neurological symptoms. Again, these symptoms show a great deal of individual variability in both type and severity.
Hearing impairment, migraine-like headaches and seizures are among the most common symptoms of mitochondrial encephalomyopathy. In at least one syndrome, headaches and seizures often are accompanied by strokelike episodes.
In addition to affecting the musculature of the eye, a mitochondrial encephalomyopathy can affect the eye itself and parts of the brain involved in vision. For instance, vision loss due to optic atrophy (shrinkage of the optic nerve) or retinopathy (degeneration of some of the cells that line the back of the eye) is a common symptom of mitochondrial encephalomyopathy. These effects are more likely to cause serious visual impairment.
Often, mitochondrial encephalomyopathy causes ataxia, or trouble with balance and coordination. People with ataxia are usually prone to falls.
Back to top 
None of the hallmark symptoms of mitochondrial disease — muscle weakness, exercise intolerance, hearing impairment, ataxia, seizures, learning disabilities, cataracts, heart defects, diabetes and stunted growth — are unique to mitochondrial disease. However, a combination of three or more of these symptoms in one person strongly points to mitochondrial disease, especially when the symptoms involve more than one organ system.
To evaluate the extent of these symptoms, a physician usually begins by taking the patient’s personal medical history, and then proceeds with physical and neurological exams. At the bottom of this page is a chart that explains in detail these tests and what they are expected to show.
The physical exam typically includes tests of strength and endurance, such as an exercise test, which can involve activities like repeatedly making a fist, or climbing up and down a small flight of stairs. The neurological exam can include tests of reflexes, vision, speech and basic cognitive (thinking) skills.
Depending on information found during the medical history and exams, the physician might proceed with more specialized tests that can detect abnormalities in muscles, brain and other organs.
The most important of these tests is the muscle biopsy , which involves removing a small sample of muscle tissue to examine. When treated with a dye that stains mitochondria red, muscles affected by mitochondrial disease often show ragged red fibers — muscle cells (fibers) that have excessive mitochondria. Other stains can detect the absence of essential mitochondrial enzymes in the muscle. It’s also possible to extract mitochondrial proteins from the muscle and measure their activity.
In addition to the muscle biopsy, noninvasive techniques can be used to examine muscle without taking a tissue sample. For instance, a technique called muscle phosphorus magnetic resonance spectroscopy (MRS) can measure levels of phosphocreatine and ATP (compounds that are often depleted in muscles affected by mitochondrial disease).
CT scans and MRI scans can be used to visually inspect the brain for signs of damage, and surface electrodes placed on the scalp can be used to produce a record of the brain’s activity called an electroencephalogram (EEG).
Similar techniques might be used to examine the functions of other organs and tissues in the body. For example, an electrocardiogram (EKG) can monitor the heart’s activity, and a blood test can detect signs of kidney malfunction.
Finally, a genetic test can determine whether someone has a genetic mutation that causes mitochondrial disease. Ideally, the test is done using genetic material extracted from blood or from a muscle biopsy. It’s important to realize that, although a positive test result can confirm diagnosis, a negative test result isn’t necessarily meaningful.
Diagnostic Tests in Mitochondrial Diseases
|Type||Test||What it shows|
|Family history||Clinical exam or oral history of family members||Can sometimes indicate inheritance pattern by noting “soft signs” in unaffected relatives. These include deafness, short stature, migraine headaches and PEO.|
4. Electron microscopy
1. Detects abnormal proliferation of mitochondria and deficiencies in cytochrome c oxidase (COX, which is complex IV in the electron transport chain).
2. Detects presence or absence of specific proteins. Can rule out other diseases or confirm loss of electron transport chain proteins.
3. Measures activities of specific enzymes. A special test called polarography measures oxygen consumption in mitochondria.
4. May confirm abnormal appearance of mitochondria. Not used much today.
|Blood enzyme test||
1. Lactate and pyruvate levels
2. Serum creatine kinase
1. If elevated, may indicate deficiency in electron transport chain; abnormal ratios of the two may help identify the part of the chain that is blocked.
2. May be slightly elevated in mitochondrial disease but usually only high in cases of mitochondrial DNA depletion.
1. Known mutations
2. Rare or unknown mutations
1. Uses blood sample or muscle sample to screen for known mutations, looking for common mutations first.
2. Can also look for rare or unknown mutations but may require samples from family members; this is more expensive and time-consuming.
Mitochondrial diseases aren’t contagious, and they aren’t caused by anything a person does. They’re caused by mutations, or changes, in genes — the cells’ blueprints for making proteins.
Genes are responsible for building our bodies, and are passed from parents to children, along with any mutations or defects they have. That means that mitochondrial diseases are inheritable, although they often affect members of the same family in different ways. (For more information about genetic mutations and mitochondrial disease, see below.)
Each mitochondrion is an energy factory that “imports” sugars and fats, breaks them down and “exports” energy (ATP) via these steps:
The genes involved in mitochondrial disease normally make proteins that work inside the mitochondria. Within each mitochondrion (singular of mitochondria), these proteins make up part of an assembly line that uses fuel molecules derived from food to manufacture the energy molecule adenosine triphosphate (ATP). This highly efficient manufacturing process requires oxygen; outside the mitochondrion, there are less efficient ways of producing ATP without oxygen.
Proteins at the beginning of the mitochondrial assembly line act like cargo handlers, importing the fuel molecules — sugars and fats — into the mitochondrion. Next, other proteins break down the sugars and fats, extracting energy in the form of charged particles called electrons.
Proteins toward the end of the line — organized into five groups called complexes I, II, III, IV and V — harness the energy from those electrons to make ATP. Complexes I through IV shuttle the electrons down the line and are therefore called the electron transport chain, and complex V actually churns out ATP, so it’s also called ATP synthase.
A deficiency in one or more of these complexes is the typical cause of a mitochondrial disease. (In fact, mitochondrial diseases are sometimes named for a specific deficiency, such as complex I deficiency.)
When a cell is filled with defective mitochondria, not only does it become deprived of ATP, it also can accumulate a backlog of unused fuel molecules and oxygen, with potentially disastrous effects.
In such cases, excess fuel molecules are used to make ATP by inefficient means, which can generate potentially harmful byproducts such as lactic acid. (This also occurs when a cell has an inadequate oxygen supply, which can happen to muscle cells during strenuous exercise.) The buildup of lactic acid in the blood — called lactic acidosis — is associated with muscle fatigue, and might actually damage muscle and nerve tissue.
Meanwhile, unused oxygen in the cell can be converted into destructive compounds called reactive oxygen species, including so-called free radicals. (These are the targets of antioxidant drugs and vitamins.)
ATP derived from mitochondria provides the main source of power for muscle cell contraction and nerve cell firing. So, muscle cells and nerve cells are especially sensitive to mitochondrial defects. The combined effects of energy deprivation and toxin accumulation in these cells probably give rise to the main symptoms of mitochondrial myopathies and encephalomyopathies.
Mitochondrial genetics are complex, and often, a mitochondrial disease can be difficult to trace through a family tree. But since they’re caused by defective genes, mitochondrial diseases do run in families.
To understand how mitochondrial diseases are passed on through families, it’s important to know that there are two types of genes essential to mitochondria. The first type is housed within the nucleus — the part of our cells that contains most of our genetic material, or DNA. The second type resides exclusively within DNA contained inside the mitochondria themselves.
Mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) can cause mitochondrial disease.
Most nDNA (along with any mutations it has) is inherited in a Mendelian pattern, loosely meaning that one copy of each gene comes from each parent. Also, most mitochondrial diseases caused by nDNA mutations (including Leigh syndrome, MNGIE and even MDS) are autosomal recessive, meaning that it takes mutations in both copies of a gene to cause disease.
Unlike nDNA, mtDNA passes only from mother to child. That’s because during conception, when the sperm fuses with the egg, the sperm’s mitochondria — and its mtDNA — are destroyed. Thus, mitochondrial diseases caused by mtDNA mutations are unique because they’re inherited in a maternal pattern (see illustration below).
|The severity of a mitochondrial disease in a child depends on the percentage of abnormal (mutant) mitochondria in the egg cell that formed him or her.|
Another unique feature of mtDNA diseases arises from the fact that a typical human cell — including the egg cell — contains only one nucleus but hundreds of mitochondria. A single cell can contain both mutant mitochondria and normal mitochondria, and the balance between the two will determine the cell’s health.
This helps explain why the symptoms of mitochondrial disease can vary so much from person to person, even within the same family.
Imagine that a woman’s egg cells (and other cells in her body) contain both normal and mutant mitochondria, and that some have just a few mutant mitochondria, while others have many. A child conceived from a “mostly healthy” egg cell probably won’t develop disease, and a child conceived from a “mostly mutant” egg cell probably will.
Also, the woman may or may not have symptoms of mitochondrial disease herself.
These diseases also can arise in a sporadic fashion, meaning they may occur with no family history.
The risk of passing on a mitochondrial disease to your children depends on many factors, including whether the disease is caused by mutations in nDNA or mtDNA.
While mitochondrial myopathies and encephalomyopathies are relatively rare, some of their potential manifestations are common in the general population. Consequently, those complications (including heart problems, stroke, seizures, migraines, deafness and diabetes) have highly effective treatments (including medications, dietary modifications and lifestyle changes).
It’s fortunate that these treatable symptoms are often the most life-threatening complications of mitochondrial disease. With that in mind, people affected by mitochondrial diseases can do a great deal to take care of themselves by monitoring their health and scheduling regular medical exams.
Topics covered in this section include:
Often, mitochondrial encephalomyopathy causes ataxia, or trouble with balance and coordination. People with ataxia are usually prone to falls. Sometimes, people with mitochondrial myopathies experience loss of muscle strength in the arms or legs. These problems can be partially avoided through physical and occupational therapy, and the use of supportive aids such as railings, a walker, a cane, braces, or — in severe cases — a wheelchair.
Back to top 
Sometimes, mitochondrial diseases can cause weakness in the breathing muscles or brain abnormalities that alter the brain's control over breathing. Those with mild respiratory problems might require occasional respiratory support, such as pressurized air, while someone with more severe problems might require permanent support from a ventilator. Those with mitochondrial disorders should watch for signs of respiratory insufficiency (such as shortness of breath or morning headaches), and have their breathing checked regularly by a specialist.
Back to top 
Mitochondrial disease can affect the heart, often by causing an interruption in the heartbeat called a conduction block. Although dangerous, this condition is treatable with a pacemaker, which stimulates normal beating of the heart. Cardiac muscle damage also may occur. People with mitochondrial disorders may need to have regular examinations by a cardiologist.
Back to top 
Children with mitochondrial diseases may have delays in reaching motor milestones such as sitting, crawling and walking. As they get older, they may have trouble moving around, speech problems, and/or learning disabilities. Children who are severely affected by these problems may benefit from services such as physical therapy, speech therapy and possibly an individualized education program (IEP) at school.
Back to top 
Instead of focusing on specific complications of mitochondrial disease, some newer, less-proven treatments aim at fixing or bypassing the defective mitochondria. These treatments are dietary supplements based on three natural substances involved in ATP (an energy molecule) production in our cells.
One substance, creatine, normally acts as a reserve for ATP by forming a compound called creatine phosphate. When a cell’s demand for ATP exceeds the amount its mitochondria can produce, creatine can release phosphate (the “P” in ATP) to rapidly enhance the ATP supply. In fact, creatine phosphate (also called phosphocreatine) typically provides the initial burst of ATP required for strenuous muscle activity.
Another substance, carnitine, generally improves the efficiency of ATP production by helping import certain fuel molecules into mitochondria, and cleaning up some of the toxic byproducts of ATP production. Carnitine is available as an over-the-counter supplement called L-carnitine.
Finally, coenzyme Q10, or coQ10, is a component of the electron transport chain, which uses oxygen to manufacture ATP. Some mitochondrial diseases are caused by coQ10 deficiency, and there’s good evidence that coQ10 supplementation is beneficial in these cases. Some doctors think that coQ10 supplementation also might alleviate other mitochondrial diseases.
Creatine, L-carnitine and coQ10 supplements often are combined into a “cocktail” for treating mitochondrial disease. Although there’s little scientific evidence that this treatment works, many people with mitochondrial disease have reported modest benefits. Consult your doctor or MDA clinic  director before taking any medication or supplement.
Back to top 
Often, headaches can be alleviated with medications, and seizures can be prevented with drugs used for epilepsy (anti-epileptics).
Back to top 
Mitochondrial myopathies can cause weakness and atrophy (shrinking) of the muscles of the face and neck, which can lead to slurred speech and difficulty swallowing. In these instances, speech therapy or changing the diet to easy-to-swallow foods can be useful.
Back to top 
Although progressive external ophthalmoplegia (PEO) — gradual paralysis of the eye muscles — is a common feature of mitochondrial myopathies, people automatically compensate for PEO by moving their heads to look in different directions and might not even notice any visual problems.
Ptosis (droopy eyelids) is potentially more frustrating because it can impair vision and also cause a listless expression, but it can be corrected by surgery, or by using glasses that have a “ptosis crutch” to lift the upper eyelids.
PEO or ptosis can sometimes cause damage to the developing brain's visual system, so it’s important for children with signs of PEO or ptosis to have their vision checked by a specialist.
Hearing impairment can be managed using hearing aids and alternate forms of communication.
Back to top 
With MDA’s support, scientists continue to make significant progress in their quest to fully understand and treat mitochondrial diseases.
Unique progress has been made in MNGIE , a disease in which a flaw in a gene in the nucleus indirectly causes a mitochondrial problem. MDA-funded researchers are experimenting with infusing donor stem cells into patients with MNGIE to restore normal metabolic conditions and halt damage to the mitochondria.
In addition, MDA-funded scientists have identified many of the genetic defects that cause mitochondrial diseases. They’ve used knowledge of those genetic defects to create animal models of mitochondrial disease, which can be used to investigate potential treatments. They’ve also designed genetic tests that allow accurate diagnosis of mitochondrial defects and provide valuable information for family planning.
Perhaps most important, knowing the genetic defects that cause mitochondrial disease opens up the possibility of developing treatments that target them.
As of late 2009, some MDA-supported researchers are working on ways to add therapeutic genes to mitochondria. Others are concentrating on understanding the biochemical processes that go on inside mitochondria, with the goal of correcting or working around these to treat mitochondrial abnormalities, whether or not new genes are added. Still others are studying the behavior of mitochondria as they exist inside cells as miniature organs (“organelles”), interacting with each other and with other cellular components.
A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.
Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic  doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)
For more about clinical trials in general, see Learn About Clinical Studies , and to learn more about trial participation in neuromuscular disease, read the Quest magazine article Being a Co-Adventurer .
For a more refined list of mitochondrial myopathy clinical trials, visit ClinicalTrials.gov , a registry of federally and privately supported clinical trials in the United States and around the world. Select "Search for Clinical Trials," and follow the instructions to narrow down your search results.
|The Kelly family at the MDA Labor Day Telethon|
If you are reading this, it’s probably because you or a loved one has just received a very bewildering diagnosis: mitochondrial myopathy. What is a mitochondrial myopathy, and what does the term mean? These are questions my wife, Jennifer, and I struggled with when our son, Michael, got his diagnosis.
Mitochondrial myopathies have many different faces. As this website describes, numerous varieties of mitochondrial diseases have been identified, with a complex array of symptoms. Some symptoms can be so mild that they’re hardly noticeable, while others are life-threatening.
Michael’s disease causes muscle weakness, muscle cramping, fatigue, lack of endurance and poor balance. You or your family member may have similar symptoms, yet each case is unique.
When we first learned that Michael had a mitochondrial myopathy, we naturally were very frightened and uncertain about the future. As time passed, we learned that we can do things we didn’t think would be possible — we can adapt to the uncertainty, control the fear, cope with changes as they occur and still have a “normal,” happy family life.
A few years after Michael's diagnosis, our lives were again turned upside down when my wife, Jennifer, learned she too had a mitochondrial disease. Jennifer’s symptoms are more severe than Michael’s; she experiences extreme muscle weakness, fatigue, gastrointestinal problems, respiratory problems and difficulty swallowing. She also requires a feeding tube, a ventilator and assistance with everyday tasks.
This website was prepared to help you understand the causes of and treatments for mitochondrial myopathies. We have found information to be a vital tool in managing Michael’s and Jennifer’s diseases, and achieving the best possible outcome.
From this website, you also may learn a few encouraging things. For example, although these are rare disorders, many of their symptoms are common in the general population, such as heart problems, seizures and diabetes. Therefore, good medical treatments already exist to help manage many symptoms.
Always remember that researchers are continually moving toward better treatments, and ultimately, cures for mitochondrial diseases. In addition, people with disabilities have greater opportunities than ever before to make the most of their abilities, as well as legal rights to equal employment opportunity and access to public places. Children with physical and cognitive disabilities are guaranteed by law a public education with whatever supports they need.
To us, Michael is not a victim of a disease or a syndrome, but a happy, loving, young man of whom we’re very proud. We’ve discovered that no one can predict exactly how Michael’s or Jennifer’s cases will progress. We’ve been blessed to see Michael lead a normal life, earning his Boy Scout Eagle Award and being inducted into the National Honor Society. Now, he's in college and is making the Dean's List every semester. Michael has shown that having a mitochondrial disease doesn’t necessarily keep you from accomplishing anything you set your mind to.
As we struggle to adapt to the changes in our lives since Jennifer’s diagnosis, it’s reassuring to know that MDA is there for us, assisting us with loans of medical equipment, equipment repairs, clinics, continuing research and just a friendly voice that understands what we are going through.
As you face the challenges ahead, we wish you the same blessing and the comfort of knowing that you are not alone.