What are mitochondrial myopathies?

Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells’ “power plants.” Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction …

How is mitochondrial myopathies diagnosed?

The most important of these tests is the muscle biopsy, which involves removing a small sample of muscle tissue to examine. When treated with a dye that stains mitochondria, muscles affected by mitochondrial disease often show ragged red fibers — muscle cells (fibers) that have excessive mitochondria.

What happens inside your body when you have a mitochondrial disease?

Mitochondrial disease can cause a vast array of health concerns, including fatigue, weakness, metabolic strokes, seizures, cardiomyopathy, arrhythmias, developmental or cognitive disabilities, diabetes mellitus, impairment of hearing, vision, growth, liver, gastrointestinal, or kidney function, and more.

When should you suspect mitochondrial disease?

Although it is not specific, an unexplained elevation of lactate in any tissue (blood, cerebrospinal fluid, brain, or urine) should raise suspicions for a mitochondrial disorder and warrants evaluation, whereas a normal lactate level in any or all tissues does not eliminate the possibility of a mitochondrial disorder.

What are the symptoms of mitochondria?

Mitochondrial disorder symptoms include:

  • Poor growth.
  • Loss of muscle coordination, muscle weakness.
  • Neurological problems, including seizures.
  • Autism spectrum disorder, represented by a variety of ASD characteristics.
  • Visual and/or hearing problems.
  • Developmental delays, learning disabilities.
  • Heart, liver or kidney disease.

Can you live a long life with mitochondrial disease?

A small study in children with mitochondrial disease examined the patient records of 221 children with mitochondrial disease. Of these, 14% died three to nine years after diagnosis. Five patients lived less than three years, and three patients lived longer than nine years.

How many people have mitochondrial myopathies?

Mitochondrial diseases are one of the most common forms of metabolic disease. They are estimated to affect about 1 in 5,000 people in the general population of the United States.