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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 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 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
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 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
What kinds of meds are used to treat patients with mitochondrial myopathies?
Medications are tailored to reduce the specific symptoms that the patient is experiencing (anticonvulsant medication may be required, for example, for an individual suffering from seizures).
What are mitochondrial myopathies?
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
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
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.
