MitochondrialRelated to the mitochondria. disease is an inherited chronic illness that can be present at birth or develop later in life. There are many types of mitochondrial diseases and it is estimated that 1 in 4,000 people have Mito.
Mitochondria are the parts of the cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and in creating other materials the body needs. Mitochondrial conditions can cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy like muscles and the brain. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.
It is important to determine which type of mitochondrial disease is present, in order to determine the best course of treatment and to predict the risk of recurrence for future children. We encourage you to take a look at the different types of mitochondrial diseases below.
Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. Please contact MitoAction for peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.
Types of Mitochondrial Diseases & Related Conditions
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ADOA: Autosomal Dominant Optic Atrophy
Autosomal DominantWhen a genetic condition is caused by a change to one of someone's two copies of a gene. Autosomal conditions do not include the X or Y chromosome. Optic Atrophy is a neuro-ophthalmic condition that tends to begin in the first ten years of life and is characterized by degeneration of the optic nerves, causing visual loss. The severity of the disease is highly variable, with ... Read More -
Alpers Disease
Alpers diseaseA progressive, neurodevelopmental mitochondrial DnA depletion syndrome. it is characterized by psychomotor regression (dementia), seizures and liver disease. is a rare mitochondrial condition where the protein that helps replicate and repair the mitochondrial DNA does not work as well as it should. Mitochondria are parts of a cell that help turn the energy we get from ... Read More -
Barth Syndrome
Barth syndromeA rare, genetic disorder of lipid metabolism that primarily affects males. is a rare mitochondrial condition where a protein on the mitochondrial membrane doesn’t work as well as it should, resulting in immature cardiolipin production. Cardiolipin is important for the structure and organization of the mitochondria as well as ... Read More -
CDD: Creatine Deficiency Disorders
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: Guanidinoacetate methyltransferase (GAMT) deficiency L-arginineAn amino acid that helps to build protein in the body.:glycine amidinotransferase (AGAT) deficiency Creatine transporter (CRTR) deficiency Read More -
Co-Enzyme Q10 Deficiency
Co-Enzyme Q10 Deficiency – an autosomal recessiveWhen a genetic condition is caused by changes to both of someone's copies of a gene. Autosomal conditions do not include the X or Y chromosome. condition with a clinical spectrum that encompasses at least five major phenotypes: (1) encephalomyopathy characterized by the triad of recurrent myoglobinuriaA breakdown of muscle after exercise or muscle injury. That causes leakage of a protein called myoglobin from the muscles into the urine. This occurrence stresses the kidney's ability to filter waste, brain involvement, and ragged red fibers; (2) severe infantile multisystemic disease; (3) ... Read More -
CPEO: Chronic Progressive External Ophthalmoplegia
Chronic Progressive External OphthalmoplegiaParalysis or weakness of the eye muscles. A common symptom in some kinds of mitochondria disease, also known as CPEO, is a symptom that can occur in several mitochondrial conditions. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. ... Read More -
Friedreich’s Ataxia
Friedreich’s ataxiaImpaired coordination of voluntary muscle movements. Manifestations can include, among others, slurred speech, poor balance, unsteady walking, falling, and involuntary eye movements (nystagmus). Usual (FRDA) is the most common of the early-onset inherited ataxias and accounts for approximately half of the cases of hereditary ataxia reported from Europe and the United States (1). FRDA is transmitted as an autosomal recessive trait, with ... Read More -
KSS: Kearns-Sayre syndrome
Kearns-Sayre syndrome, also known as KSS, is a rare mitochondrial condition where a large part of the mitochondrial genome, or set of DNA contained in the mitochondria of a cell, is missing. Mitochondria are parts of a cell that help ... Read More -
Lactic Acidosis
Lactic acidosis occurs when lactate and other molecules, called protons, build up faster than the body can remove them. This can cause low levels of oxygen in body tissues. Lactate is a normal substance made by many organs in the ... Read More -
Leigh Syndrome
Leigh syndrome is a rare mitochondrial condition where the body is not able to use oxygen to change energy from food into a form of energy it can use the way that it should. Mitochondria are parts of a cell ... Read More -
LHON Plus: Lebers Hereditary Optic Neuropathy Plus
Lebers Hereditary Optic Neuropathy Plus disease, also known as LHON Plus, is a rare mitochondrial condition that causes vision loss and non-vision-related symptoms. Mitochondria are parts of a cell that help turn the energy we get from food into energy ... Read More -
LHON: Leber Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy (or LHON) is an inherited form of vision loss that can result in sudden, painless loss of central vision due to optic nerve atrophy. Read More -
Luft Disease
Luft disease is a very rare mitochondrial condition with only two reported cases. Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important ... Read More -
MDS: Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA depletion syndrome, also known as MDS, is a group of genetic conditions affecting the mitochondria. For those with MDS, there isn’t enough mitochondria in certain tissues or body parts. Mitochondria are parts of a cell that help turn ... Read More -
MELAS: Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome, also known as MELAS, is a rare mitochondrial condition where the body is not able to make enough mitochondrial proteins needed to make energy. Mitochondria are parts of a cell that help ... Read More -
MERRF: Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic epilepsy with ragged-red fibers, also known as MERRF, is a rare mitochondrial condition where the mitochondria are not able to make proteins, use oxygen, and produce energy properly. Mitochondria are parts of a cell that help turn the energy ... Read More -
MIDD: Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness, also known as MIDD, is a rare mitochondrial condition that slows down the mitochondria’s ability to make proteins. This causes the mitochondria to not work as well as they should, and is thought to impact ... Read More -
Mitochondrial Myopathy
Mitochondrial Myopathy is a mitochondrial disease causing significant muscular problems is referred to as mitochondrial myopathy, while a mitochondrial disease that causes significant neurological and muscular problems is termed as mitochondrial encephalomyopathy. Organs such as the brain, skeletal muscles, and ... Read More -
MNGIE: Mitochondrial Neurogastrointestinal Encephalopathy
Mitochondrial Neurogastrointestinal EncephalopathyA multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract. Causing gastrointestinal dysmotility, weakening of extraocular muscles causing drooping o, also known as MNGIE, is a rare mitochondrial condition where errors in the mitochondrial genome (the set of DNA contained in a cell’s mitochondria) build up over time in different tissues. Mitochondria are parts of a cell ... Read More -
mtARS: Mitochondrial Aminoacyl-tRNA Synthetase Disorders
Mitochondrial ARS (Aminoacyl-tRNA Synthetase) Disorders (mtARS) are a group of rare genetic disorders. The disorders are caused by mutationsgenetic variant, genetic change in the aminoacyl-tRNA synthetases (ARS) genes, which are responsible for the production of enzymes essential for mitochondrial protein synthesis. Read More -
Multiple Mitochondrial Dysfunction Syndrome
Children suffering from the neurodevelopmental disorder are affected with early onset of neurological deterioration, seizuresEpisodes of abnormal electrical activity in the brain., extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis, and early demise. Read More -
NARP: Neuropathy Ataxia Retinitis Pigmentosa Syndrome
Neuropathy ataxia retinitis pigmentosaThe breakdown and loss of cells in the retina. Resulting in difficulty seeing at night and the loss of side vision. syndrome, also known as NARP, is a rare mitochondrial condition where the mitochondria are not able to produce ATP molecules properly. ATP molecules are the cell’s main energy source. Mitochondria are parts of a cell that ... Read More -
PMM: Primary Mitochondrial Myopathy
Primary mitochondrial myopathy, also known as PMM, is a group of genetic conditions with similar features that cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy, like muscles ... Read More -
POLG-Related Disorders
POLG-related disorders are a group of rare genetic conditions that affect the mitochondria. Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important ... Read More -
POLG2-Related Progressive External Ophthalmoplegia
POLG2-related progressive external ophthalmoplegia, also known as POLG2-related CPEO or PEOA4, is a rare mitochondrial condition. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. They are ... Read More -
TK2d: Thymidine Kinase 2 Deficiency
Thymidine Kinase 2 Deficiency, also known as TK2D, is a rare mitochondrial condition. TK2D causes at least one part of the body to have low levels of mitochondrial DNA (mtDNA). Conditions that cause low levels of mtDNA, including TK2D, are ... Read More
