Defining mitochondrial disease

Mitochondrial diseases have progressive and severe impacts on quality of life1-4

There are many types of diseases affecting mitochondria, each characterized by progressively worsening symptoms and involving multiple organs or organ systems.5 They are often fatal. While rare, mitochondrial disease may actually be more common than some think.1,6

Mitochondrial diseases typically manifest as neuromuscular or metabolic conditions7

Parts of the body that require the most energy are often the most affected7

Symptoms may impact the7:

Brain

Muscles

Liver

Lungs

Heart

Gastrointestinal
tract

The involvement of multiple organ systems may suggest a mitochondrial disease.5

Medical vial.

Genetic testing is often the fastest way to confirm diagnosis.8,9

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Symptoms of mitochondrial diseases vary considerably and often mimic other diseases5

The complex presentation is a barrier to diagnosis, often resulting in misdiagnosis or delayed diagnosis.5 However, advancements in genetic testing have made diagnosing mitochondrial diseases easier. If you see red-flag symptoms of mitochondrial diseases, consider conducting a genetic test to help shorten the diagnostic journey.10,11

Red-flag symptoms of mitochondrial diseases1,10

  • Reduced energy/
    fatigue

  • Muscle weakness

  • Difficulty swallowing or walking

  • Neurological symptoms (eg, epilepsy, ataxia, hearing loss)

  • In infants: hypotonia, weakness, failure to thrive, and metabolic acidosis (especially lactic acidosis)

Delayed and incorrect diagnoses are common for patients with mitochondrial diseases5

55%

of patients reported receiving an incorrect nonmitochondrial disease diagnosis.

32%

of those patients received multiple misdiagnoses of nonmitochondrial diseases.

Historically, the diagnostic journey has been lengthy and required many tests before a conclusion was made.5

Now, genetic testing provides the most direct path to diagnosis, as long as the test is inclusive of genes involved in mitochondrial function. If patients experience mitochondrial disease symptoms and have undergone prior tests that did not include genes involved in mitochondrial function, it's important to retest or reanalyze the sample.11