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What does the prognosis for mitochondrial myopathies depend on?
GaleEncyofNeuroDis
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
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∙ 13y ago
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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
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
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
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
Does age of onset affect prognosis for myopathy?
Progressive myopathies that develop later in life usually have a better prognosis than conditions that develop during childhood.
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
