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a group of neuromuscular disorders that result from defects in the function of the mitochondrion, a small organelle located inside many cells that are responsible for fulfilling energy requirements of the tissue
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What does the diagnostic criteria for mitochondrial myopathies involve?
The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation
What defects can be present in individuals with mitochondrial myopathies?
Defects can involve seizures, movement disorders , headaches , and cognitive (thought) disorders such as developmental delay or dementia (forgetfulness, senility). People with mitochondrial myopathies can also have hearing loss
What are the characteristics of mitochondrial myopathies?
People affected with one of these disorders usually have muscle symptoms such as weakness, breathlessness, exercise intolerance, heart failure, dementia , stroke-like symptoms, deafness, blindness, seizures , heavy eyelids or eye problems, and/or vomiting
When do the symptoms of mitochondrial myopathies caused by nDNA mutations usually develop?
Generally, nDNA mutations result in clinical symptoms that develop during early childhood, while mtDNA mutations (either directly or as secondary effects from a nDNA mutation) lead to clinical manifestations that develop in late childhood
What is the middle of the mitochondrion called?
mitochondrial matrix
Who are patients with mitochondrial myopathies referred to?
Persons with mitochondrial myopathies are referred to a clinical geneticist for management and further evaluation, particularly in the absence of a confident clinical diagnosis
What does the diagnostic criteria for mitochondrial myopathies involve?
The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation
What do the symptoms of mitochondrial myopathies depend on?
Symptoms of mitochondrial myopathies are largely variable from person to person, even within the same family, and are dependent on the amount and type of genetic mutations present
How are mitochondrial myopathies diagnosed?
The diagnosis of mitochondrial myopathies is initially clinical, which means that it is based on the observable clinical manifestations that the patient shows versus results obtained from genetic analysis or laboratory tests
What defects can be present in individuals with mitochondrial myopathies?
Defects can involve seizures, movement disorders , headaches , and cognitive (thought) disorders such as developmental delay or dementia (forgetfulness, senility). People with mitochondrial myopathies can also have hearing loss
What does the prognosis for mitochondrial myopathies depend on?
Life expectancy for a person with a mitochondrial myopathy depends on many different circumstances, including the percentage of mtDNA that is mutated, the type of mutation, and the tissue in which it is mutated
How was the identification of nDNA mutations that cause mitochondrial myopathies first made?
first made when a nuclear gene involved in mtDNA replication was found to be defective in a disorder involving a patient with a mitochondrial myopathy
Ragged red fiber is a sign of an abnormality in what?
It can be seen in a variety of conditions. However, it is frequently associated with muscle disorders known as "mitochondrial myopathies."
How is a diagnosis of mitochondrial myopathies confirmed?
A clinical diagnosis can be confirmed by laboratory studies, muscle biopsy , and molecular genetic evaluation, in which a geneticist analyzes the mtDNA
When can the symptoms of mitochondrial myopathies first appear?
These disorders can occur in infancy, childhood, or adulthood. In general, individuals with mitochondria dysfunction have abnormalities in the central nervous system
What is a special concern for patients with mitochondrial myopathies?
the absence of a causative explanation for why the symptoms developed. This is especially challenging for determining recurrence risks for parents considering future pregnancies
What dietary supplements may help patients with mitochondrial myopathies?
Creatine, coenzyme Q 10, and carnitine are naturally occurring supplements that are thought to enhance ATP production
