Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).
MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.
The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.
This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Ayman El-Hattab is a Pediatrics specialist and a Medical Genetics expert in Columbia, Missouri. El-Hattab is rated as an Elite expert by MediFind in the treatment of MELAS Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Achalasia Microcephaly Syndrome.
Fernando Scaglia is a Pediatrics specialist and a Medical Genetics expert in Houston, Texas. Scaglia has been practicing medicine for over 34 years and is rated as an Elite expert by MediFind in the treatment of MELAS Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are MELAS Syndrome, Primary Carnitine Deficiency, Hypotonia, and Leigh Syndrome. Scaglia is currently accepting new patients.
Michio Hirano is a Neurologist in New York, New York. Hirano has been practicing medicine for over 37 years and is rated as an Elite expert by MediFind in the treatment of MELAS Syndrome. He is also highly rated in 31 other conditions, according to our data. His top areas of expertise are MELAS Syndrome, Acute Cerebellar Ataxia, Mitochondrial Neurogastrointestinal Encephalopathy Disease, X-Linked Dominant Scapuloperoneal Myopathy, and Vertebroplasty.
Summary: Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide ...
Summary: The main goal of the project is provison of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
Published Date: December 01, 2013Published By: National Institutes of Health