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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
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 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
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 is a diagnosis of mitochondrial myopathies confirmed?
A diagnosis of mitochondrial myopathies is confirmed through a combination of clinical evaluation, muscle biopsy to look for mitochondrial abnormalities, and genetic testing to identify mutations in mitochondrial DNA or nuclear DNA. Additional tests may also be conducted to assess muscle function and metabolic abnormalities.
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."
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 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
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 disorders are the most common mitochondrial myopathies?
NARP: neuropathy, ataxia and retinitis pigmentosa KS: Kearns-Sayre syndrome Leigh's syndrome PEO: progressive external ophthalmoplegia MILS: maternally inherited Leigh's syndrome MELAS: mitochondrial encephalomyopathy, lactic acidosis
