Mitochondrial disease (mito) can be diagnosed in various ways. Knowing your child's diagnosis helps you manage their symptoms by finding the right information. Understanding your child's diagnosis is important. It is necessary to take part in clinical studies. It is also necessary when considering your options when planning a family.
Learn more about genetics in our genetics and mito resources. They cover the benefits of understanding your diagnosis and your options for building a family.
Categories of diagnosis
| Clinical | Biochemical | Genetic |
|---|---|---|
| A clinical diagnosis of mito is made by looking at your child's 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 non-genetic tests, usually through a muscle biopsy. Sometimes 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. to find the genetic change in different cells within the body. |
|
Suspected Based on individual symptoms, family history and other tests. |
Suspected Currently under investigation or results have been inconclusive. |
Suspected Undergoing testing, genetic change in the family is known or has been identified but is not a proven cause of mito. |
|
Confirmed Tests have confirmed mito. |
Confirmed Tests have confirmed a genetic cause of mito. |
Mitochondrial disease (mito) is an umbrella term, like ‘cancer’. There are many different types of mito, as there are many types of cancer.
Following a diagnosis of mito, you may have been given various names for your child's diagnosis. The name of the diagnosis usually depends on the category of diagnosis your child has received. Your child may have received a clinical diagnosis first (based on symptoms), while more tests are done. When the test results are available, you may then be given a biochemical or genetic diagnosis. The type of diagnosis depends on the tests your child has had.
Mito can be named and classified by the genetic change (genetic diagnosis), or it can be named by its symptoms and the results of non-genetic tests (clinical and/or biochemical diagnosis). Because mito can be classified in this way, some types of mito can fall into more than one category.
Some types of mito are grouped into a broad diagnosis based on symptoms and non-genetic tests, such as mitochondrial myopathy and mitochondrial encephalomyopathy. They all affect the body in different ways. For example, mitochondrial myopathy affects the muscles and mitochondrial encephalomyopathy affects the brain and muscles.
Some types of mito are also grouped into specific syndromes based on symptoms and non-genetic tests, such as Maternally Inherited Leigh Syndrome (MILS) commonly known as Leigh syndrome and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS).
On a genetic test report, you can find a genetic diagnosis. For example, the MT-ATP6 gene in Leigh syndrome or m.3243A>G for MELAS. This is when a genetic test, has confirmed the genetic change in a gene that can cause mito.
Meet Lola
Nicki noticed that her daughter Lola wasn’t able to suck normally when feeding (called dysphagia) and would often vomit after a feed. She also noticed that Lola wasn’t meeting her developmental milestones and seemed to be floppy (called hypotonia). Lola is Nicki's first child, and there is no history of mito in the family.
Lola was referred to a pediatrician who arranged for various tests that confirmed Leigh syndrome. Genetic testing later confirmed a genetic change in the MT-ATP6 gene. Lola has various names for her diagnosis.
Diagnosis: The change to the MT-ATP6 gene is the genetic diagnosis. This genetic change caused Leigh syndrome, which is a type of mitochondrial encephalomyopathy.
Meet Lola
Nicki noticed that Lola was unable to feed normally and would often vomit after a feed. She also noticed that Lola wasn't meeting her developmental milestones and seemed to be floppy.
Symptoms
Dysphagia
Hypotonia
Developmental delay
Genetic testing confirmed
Genetic change affecting the MT-ATP6 gene
Clinical diagnoses
Mitochondrial disease (mito)
AND
Mitochondrial encephalomyopathy
AND
Leigh syndrome
AND
Genetic diagnosis
Change to MT-ATP6 gene
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: Mito Foundation
Reviewers: Professor John Christodoulou AM MB BS PhD FRACP FRCPA FHGSA, and members of the Mito Community Resource Review Panel.
Version: 1.1
Date published: Wednesday 18 October 2023Â
Date of last revision: Thursday 18 July 2024
