Mitochondrial diseases
Mitochondrial Diseases
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Pronounced as "my-toh-kon-dree-al diseases", the term is derived from the Greek words 'mitos' meaning thread, and 'chondrion' meaning granule, referring to the appearance of mitochondria under a microscope.
Classification
Mitochondrial diseases can be classified into several types, including:
- Leber's hereditary optic neuropathy (LHON)
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Myoclonic epilepsy with ragged red fibers (MERRF)
- Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
- Kearns-Sayre syndrome (KSS)
Symptoms
Symptoms of mitochondrial diseases can include poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities, and organ dysfunction. Symptoms can vary greatly from patient to patient and largely depend on the number and type of cells affected by mitochondrial dysfunction.
Causes
Mitochondrial diseases are usually caused by mutations in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They can be inherited in an autosomal dominant, autosomal recessive, X-linked, or maternal (mitochondrial) manner.
Diagnosis
Diagnosis of mitochondrial diseases can be challenging due to the wide range of symptoms and the fact that symptoms can appear at any age. Diagnosis typically involves a combination of clinical examination, histologic examination, biochemical testing, and genetic testing.
Treatment
There is currently no cure for mitochondrial diseases, but treatment can help reduce symptoms. Treatment typically involves managing symptoms and slowing the progression of the disease. This can include physical therapy, respiratory therapy, and medication for seizures and other symptoms.
See Also
References
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