WHAT IS MITOCHONDRIAL MYOPATHY (MITO)?
First, 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. Mitochondrial disorders
differ from other genetic disorders affecting the muscles in a number of
ways. Most significantly, although mitochondrial disease can present as
a "pure myopathy", meaning that only the skeletal or heart muscles are
affected, it more often causes problems in many different organ systems,
including the nervous, visual, renal (kidneys), digestive and circulatory
systems. The mitochondria are essential for turning the food we eat into
energy in the form of the molecule ATP. Although there are many
working parts in each mitochondrian, the mitochondrial
encephalomyopathies (those disorders affecting brain and muscle and the
type covered in MDA'a program) are most often caused by defects in the
proteins that make up the respiratory chain. The respiratory chain inside
the mitochondrian is an assembly line of protein complexes that
combines electrons with oxygen to generate potential energy in the form
of ATP. (This respiratory chain has nothing to do with breathing)
WHAT HAPPENS TO SOMEONE WITH MITOCHONDRIAL
DISEASES?
The main symptoms of mitochondrial myopathy are muscle weakness
and wasting, and exercise intolerance. It is important to remember that
the severity of any of these symptoms varies 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.
Mitochondrial myopathies also can cause weakness and wasting in other
muscles of the face and neck, which can lead to slurred speech and
difficulty with swallowing.
Exercise intolerance, also called exertional fatigue, refers to unusual
feelings of exhaustion brought on by physical exertion. Some people
might only have trouble with athletic activities like jogging, while others
might experience problems with everyday activities like walking across
the room or lifting a milk carton.
Despite the fact that mitochondrial diseases can be so variable and affect
so many organ systems, a few symptoms are common to many of these
disorders. These include muscle weakness, severe muscle cramps,
extreme fatigue, gastrointestinal problems, droopy eyelids, eye muscle
paralysis, retinal degeneration with visual loss, seizures, ataxia (loss of
balance and coordination) and learning delays. Sometimes,
mitochondrial diseases can cause significant weakness in the muscles that
support breathing. One person might require occasional respiratory
support such as oxygen or pressurized air, while someone else with more
severe problems might require a permanent ventilator.
Mitochondrial diseases can also directly affect the heart. The usual
cause is an interruption in the rhythmic beating of the heart, called a
conduction block. Though dangerous, this condition is treatable with a
pacemaker, which stimulates normal beating of the heart. Other
potential health issues of mitochondrial myopathies can be serious kidney
problems, gastrointestinal problems and diabetes.
For more information on Mitochondrial Myopathy please visit:
www.MDA.org - look for Metabolic Diseases of Muscle
First, 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. Mitochondrial disorders
differ from other genetic disorders affecting the muscles in a number of
ways. Most significantly, although mitochondrial disease can present as
a "pure myopathy", meaning that only the skeletal or heart muscles are
affected, it more often causes problems in many different organ systems,
including the nervous, visual, renal (kidneys), digestive and circulatory
systems. The mitochondria are essential for turning the food we eat into
energy in the form of the molecule ATP. Although there are many
working parts in each mitochondrian, the mitochondrial
encephalomyopathies (those disorders affecting brain and muscle and the
type covered in MDA'a program) are most often caused by defects in the
proteins that make up the respiratory chain. The respiratory chain inside
the mitochondrian is an assembly line of protein complexes that
combines electrons with oxygen to generate potential energy in the form
of ATP. (This respiratory chain has nothing to do with breathing)
WHAT HAPPENS TO SOMEONE WITH MITOCHONDRIAL
DISEASES?
The main symptoms of mitochondrial myopathy are muscle weakness
and wasting, and exercise intolerance. It is important to remember that
the severity of any of these symptoms varies 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.
Mitochondrial myopathies also can cause weakness and wasting in other
muscles of the face and neck, which can lead to slurred speech and
difficulty with swallowing.
Exercise intolerance, also called exertional fatigue, refers to unusual
feelings of exhaustion brought on by physical exertion. Some people
might only have trouble with athletic activities like jogging, while others
might experience problems with everyday activities like walking across
the room or lifting a milk carton.
Despite the fact that mitochondrial diseases can be so variable and affect
so many organ systems, a few symptoms are common to many of these
disorders. These include muscle weakness, severe muscle cramps,
extreme fatigue, gastrointestinal problems, droopy eyelids, eye muscle
paralysis, retinal degeneration with visual loss, seizures, ataxia (loss of
balance and coordination) and learning delays. Sometimes,
mitochondrial diseases can cause significant weakness in the muscles that
support breathing. One person might require occasional respiratory
support such as oxygen or pressurized air, while someone else with more
severe problems might require a permanent ventilator.
Mitochondrial diseases can also directly affect the heart. The usual
cause is an interruption in the rhythmic beating of the heart, called a
conduction block. Though dangerous, this condition is treatable with a
pacemaker, which stimulates normal beating of the heart. Other
potential health issues of mitochondrial myopathies can be serious kidney
problems, gastrointestinal problems and diabetes.
For more information on Mitochondrial Myopathy please visit:
www.MDA.org - look for Metabolic Diseases of Muscle
| Gail Renderman Inspirational Speaker & Author |
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| Gail Renderman Inspirational Speaker & Author |
MITOCHONDRIAL MYOPATHY (MITO)
| All rights reserved. Copyright 2003 - 2012 |
