Deafness, isolated, due to mitochondrial transmission
Deafness, Isolated, Due to Mitochondrial Transmission is a genetic condition characterized by hearing loss that is not associated with other symptoms or syndromes. The condition is caused by mutations in mitochondrial DNA (mtDNA), which is inherited maternally. This means that the condition is passed from mother to all of her offspring, but only daughters can pass it on to their children.
Causes[edit | edit source]
The primary cause of Deafness, Isolated, Due to Mitochondrial Transmission is mutations in the mitochondrial DNA. Mitochondria are known as the powerhouses of the cell, generating most of the cell's supply of adenosine triphosphate (ATP), used as a source of chemical energy. Unlike nuclear DNA, mitochondrial DNA is inherited only from the mother. Mutations in mtDNA can impair mitochondrial function, affecting organs and systems that have high energy demands, such as the auditory system.
Symptoms and Diagnosis[edit | edit source]
The main symptom of this condition is sensorineural hearing loss, which can range from mild to profound. The hearing loss is often progressive, meaning it can worsen over time. Diagnosis typically involves a combination of hearing tests, genetic testing to identify mitochondrial mutations, and a review of the patient's family history.
Treatment[edit | edit source]
There is currently no cure for Deafness, Isolated, Due to Mitochondrial Transmission. Treatment focuses on managing symptoms and improving quality of life. This may include the use of hearing aids, cochlear implants, and other assistive devices, as well as support services such as speech therapy and sign language classes.
Epidemiology[edit | edit source]
The prevalence of this condition varies widely, as it depends on the specific mitochondrial mutation and its distribution in the population. Some mutations are more common in certain ethnic or geographic groups.
Genetic Counseling[edit | edit source]
Genetic counseling is recommended for individuals and families affected by this condition. Counselors can provide information on the risk of transmission to offspring and discuss reproductive options.
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Contributors: Prab R. Tumpati, MD
