Thymidine kinase 2 deficiency, or TK2d, is a rare type of mitochondrial disease that mainly affects the muscles and can impact movement, swallowing, speech and breathing. Symptoms can begin in infancy or childhood, but may also first appear during the teenage years or adulthood.
In this episode, we explore how changes in the TK2 gene affect mitochondrial DNA and energy production, why symptoms can vary so widely between people, and how TK2d is inherited. We also discuss the tests that may be used during diagnosis, genetic counselling, ongoing monitoring and emergency planning, as well as current research and emerging therapies.
The information in this episode is based on Mito Foundation resources. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. Subscribe and follow MitoCast wherever you found this episode.

Autosomal dominant optic atrophy, or ADOA, is a rare inherited condition that affects the optic nerves and can lead to gradual changes in vision. It is one of at least 350 known types of mitochondrial disease.
In this episode, we explore how ADOA can affect central and colour vision, the role of the OPA1 gene, how the condition can be inherited, and the tests that may be used during diagnosis. We also discuss ADOA plus, where some people may experience additional symptoms affecting hearing, balance, movement, muscles or nerves, as well as ongoing monitoring, support and current research.
The information in this episode is based on Mito Foundation resources. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. Subscribe and follow MitoCast wherever you found this episode.

Neurogenic weakness with Ataxia and Retinitis Pigmentosa, also known as NARP, is a rare type of mitochondrial disease, mito for short. It affects mitochondria, the parts of our cells that make energy, and it commonly impacts the brain, nervous system and muscles. NARP often begins in the first few months or years of life, but it can also start in the teenage years or adulthood.

In this episode, we unpack what NARP can look like day to day. We explain symptoms such as muscle weakness and low muscle tone, balance and coordination changes, sensory nerve symptoms like numbness or burning pain, and vision changes that may worsen over time, including night or side-vision loss. We also explore why experiences can differ from person to person, even with the same genetic change, and point you towards support and planning resources linked in the episode description.

The information in this episode is based on Mito Foundation resources, including the NARP information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Leigh syndrome, sometimes called Leigh’s disease, is a rare type of mitochondrial disease, mito for short. It mainly affects the brain, nervous system and muscles, and it can also impact things like vision, hearing, digestion, the lungs and the heart. Leigh syndrome often starts in the first few months or years of life, but it can also begin later, including in the teenage years or adulthood.

In this episode, we talk through what Leigh syndrome can look like day to day. We explain common symptoms, and how Leigh syndrome differ from person to person, including depending on when symptoms begin.

The information in this episode is based on Mito Foundation resources, including the Leigh Syndrome information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Myoclonic epilepsy and ragged-red fibres, or MERRF, is a rare type of mitochondrial disease (mito). It most often affects the brain, nerves and muscles. Signs and symptoms usually begin in late adolescence through adulthood, though they can occur at any age.

In this episode, we talk through what MERRF can look like day to day. We explain common symptoms like sudden muscle jerks, seizures, changes in balance and coordination, and muscle weakness and fatigue, and why experiences can differ from person to person, even within the same family.

The information in this episode is based on Mito Foundation resources, including the MERRF information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes, or MELAS, is a rare type of mitochondrial disease, mito for short. MELAS most often impacts the brain and muscles, and it can also affect things like the body’s hormone system, hearing, vision, and the heart.

In this episode, we talk through what stroke-like episodes can look like, including seizures, changes in behaviour, and sudden changes such as weakness on one side, confusion or loss of awareness, changes in vision or hearing, and difficulty with thinking or memory. We also explain lactic acidosis in plain language, and why muscle weakness and feeling very tired after light activity can be part of MELAS. We discuss how diagnosis can involve looking at your symptoms over time and doing more than one type of test, including genetic testing, and why care can include a team approach with regular checks such as heart and hearing checks and planning for emergencies.

The information in this episode is based on Mito Foundation resources, including the MELAS information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Leber hereditary optic neuropathy, or LHON, is a rare type of mitochondrial disease, mito for short. LHON most often affects central vision.

In this episode, we talk through what LHON can look like in everyday life, including why peripheral, or side vision, may remain even when central vision changes. We explain how LHON is linked to a genetic change in mitochondrial DNA, while also noting that not everyone who carries the genetic change will develop symptoms. We also walk through how diagnosis and care can involve eye and vision tests, genetic testing, and support from low vision and rehabilitation services. We take a practical look at supports and pathways that may help, including NDIS navigation support and what kinds of information can strengthen an application.

The information in this episode is based on Mito Foundation resources, including the LHON information page and the information sheet on NDIS assistance for LHON. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Kearns–Sayre syndrome, or KSS, is a rare type of mitochondrial disease, mito for short. It usually starts before the age of 20. KSS often affects the muscles around the eyes. It can also affect the back of the eye, which may change night vision or side vision. Some people may also have heart symptoms.

In this episode, we talk through what KSS can look like day to day, and how it can overlap with chronic progressive external ophthalmoplegia, or CPEO. We explain why diagnosis can involve looking at your symptoms over time and doing more than one type of test, including genetic testing. We also discuss the kinds of health checks that may be part of care, like eye, heart, hearing, and hormone checks.

The information in this episode is based on Mito Foundation resources, including the KSS information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

Chronic progressive external ophthalmoplegia, or CPEO, is a type of mitochondrial disease (mito) that most often affects the muscles around the eyes. Some people only have eye symptoms. Others may also have things like muscle weakness, getting tired quickly with activity, or swallowing problems.

In this episode, we talk through what CPEO can look like day to day, why diagnosis can take time, and why you may hear more than one name for a mito diagnosis. We also share Emy’s story.

The information in this episode is based on Mito Foundation resources, including the CPEO information page. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. To stay connected, subscribe and follow MitoCast wherever you found this episode.

This episode shares key tips from Dr Shanti, a metabolic geneticist. She explained why regular checks help people with mito stay safe and supported.

Main points:

• Check hearing, heart and eyes often.
• Check vitamin levels and nutrition every six to twelve months.
• Watch for seizures, headaches or other changes.
• Manage fatigue with pacing, gentle activity and regular meals.
• Look after mental health and ask for help early.
• Monitoring helps pick up problems early and supports better care.

Full recording, slides and summary:

www.mito.org.au/resource/video/mito-community-summit-2025-monitoring-mitochondrial-disease-mito/

For support, call 1300 977 180 or visit mito.org.au.