There are different ways that mito can be diagnosed. Understanding your diagnosis can help you manage symptoms of mito. This is important for individuals interested in participating in clinical studies or considering planning a family.

Categories of diagnosis

A clinical diagnosis of mito is made by looking at your symptoms, health history and a physical examination. A clinical diagnosis is unable to identify the exact type of mito. A biochemical diagnosis is confirmed by a series of tests, usually through a muscle biopsy but possibly liver, heart, or skin biopsies may be used. Blood and urine tests can also help by showing abnormal levels of specific chemicals, which can make a diagnosis more certain. A genetic diagnosis uses genetic testing to confirm the specific type of mito. The sample used for testing depends on the doctor's suspicion. This may be a blood sample, hair follicles, urine and sometimes, a muscle or liver biopsy is needed.
Based on individual symptoms, family history and other tests.
Currently under investigation or results have been inconclusive.
Undergoing testing, genetic variation in the family is known or has been identified but is not a proven cause of mito.
Tests have confirmed mito.
Tests have confirmed a genetic cause of mito.

Explore studies that will help advance treatments for mito and improve health outcomes for individuals affected by mito.

The Mito Registry's main goal is to gather patient data to bring clinical trials to Australia. This helps our mito community access the newest medicines and treatments.

Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Author(s): Mito Foundation
Reviewer(s): Professor John Christodoulou AM MB BS PhD FRACP FRCPA FHGSA
Version: 1
Date published: Wednesday 18 October 2023