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Genetics Hearing loss And Rare Conditions

Genetics Hearing loss And Rare Conditions

The answer to this question is, “yes.”

Their grandmother joins them for a family gathering.

Family members with hearing loss may have a genetic predisposition to the condition.

It has been established that hearing loss, especially age-related hearing loss, is a hereditary trait. As you become older, your risk of developing hearing loss increases.

“Genetic characteristics play a major role on age-related hearing loss,” according to a comprehensive study of 376 Caucasian families. Women’s hearing loss is more genetically predisposed than men’s, even though males are more commonly impacted by hearing loss due to occupational noise exposure in traditionally male-dominated fields like aviation and the military.

However, many things can influence research like these, such as practices leading to hearing loss, which cannot be ruled out. It’s tough to tell if the hearing loss results from genetics or expected behaviour because families often share a common occupation or habit. Most likely, it’s a hybrid of the two.

Understanding your ancestry is essential.

According to the CDC, knowing your family’s history of chronic disease is an essential first step in reducing your risk of contracting it yourself. According to the CDC, ask your immediate family members about any severe or chronic illnesses they may have, as well as when they first became ill.

Your family and primary care physician will benefit much from knowing the answers you’ve uncovered. Your doctor will use this data to decide which screening tests you require and when you should begin them.

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There is an example of this in otosclerosis, for instance.

In otosclerosis, abnormal bone development in the middle ear is most common in the stapes bone. The gradual loss of hearing resulting from this condition is often accompanied by difficulties hearing low-pitched sounds. Dizziness, difficulty balancing, or tinnitus are all possible symptoms for affected people.

Their family history might influence a person’s risk of developing otosclerosis.

Children whose parents have otosclerosis have a 25% probability of developing the ailment themselves. There is a 50% chance of developing the condition if both parents have it. Women in their forties and fifties, particularly white women, are more at risk.

Surgery is often used to address conductive hearing loss, a common symptom of the disease. Among the less common causes of sensorineural hearing loss is otosclerosis, which attacks the inner ear’s sensory cells and nerves, resulting in hearing loss.

A range of unusual conditions can cause hearing loss.

Researchers have identified seven thousand rare diseases. An uncommon condition affects as many as 30 million people in the United States. Some of these conditions can be passed down through families, but others have no known genetic cause.

The website estimates 400 different illnesses for which hearing loss is a symptom.

There are at least 400 conditions that can cause hearing loss. Some of these conditions are passed down via families, while others have no known genetic cause.

There is a significant range in the severity of hearing loss among people. Some people can get by with just hearing aids. Consider having a cochlear implant and learning to read the speech and American Sign Language if you are deaf. Multiple structural and functional changes to the ears can result from a rare condition, necessitating surgery in many cases.

The Turner syndrome (TS):

One possible sign is an increasing number of ear infections.

A primary care physician should be consulted by parents of girls who appear to be developing slower than their peers and have recurring ear infections. This rare genetic condition affects one in every 2,000 to 4,000 female births.

Hearing loss is more common among patients. If these abnormalities are not detected early, they can lead to health problems with the heart, liver, and kidneys, as well as autoimmune disorders.

How does Turner syndrome affect hearing?

Women and girls with Turner syndrome are more likely to experience hearing problems and should regularly examine their hearing. There is a chance of developing the following conditions:

Middle ear infections are a common problem for adults, but they become less common in teenagers as they become older.

Recurrent ear infections in Turner syndrome girls may increase the risk of cholesteatoma. Even though these cyst-like growths are not malignant, they can cause significant hearing impairments, balance disorders and dizziness, and even meningitis if they are not adequately treated.

Because of difficulties with the Eustachian tube and the frequent incidence of infections in Turner syndrome patients, it is estimated that up to 80% of these people will have conductive hearing loss. Even while the disease does not worsen, it might affect speech development if left untreated.

Uncorrected hearing loss (SNHL).

As much as 90% of the population is affected by it at some point in their lives. Because SNHL is a progressive condition, whatever hearing loss you experience will only get worse with time.

The illness of Pendred

Children with hearing loss can have Pendred syndrome, and a genetic disorder passed down from their parents that can affect their balance and thyroid.

Families with a history of early hearing loss or goitre and hearing loss can possess the faulty gene that causes this recessive disorder.

Ear, nose, and throat (ENT) specialists can diagnose Pendred syndrome. Despite the lack of a cure, the condition is manageable. Depending on how severe a person’s hearing loss is, the therapy they receive will be affected. Hearing aids or a cochlear implant may be used to help the person.

The Usher Syndrome

There are three levels of hearing loss associated with Usher syndrome, each with a distinct onset and progression.

In persons with Usher syndrome, hearing loss and retinitis pigmentosa (RP), an eye disease, are both presents. Half of all cases of hereditary deaf-blindness, a kind of dual sensory impairment, are caused by Usher syndrome, according to the NIDCD.

Each of the three types of Usher syndrome is inherited from one’s parents as an autosomal recessive condition.

Regarding hearing and balance, those born with Usher syndrome type 1 experience profound hearing loss or deafness.

Those born with Usher syndrome type 2 have moderate to severe hearing loss and average ability to maintain balance. It is common for RP to be discovered in the late teens.

When a person is born with Usher syndrome type 3, their hearing and vision are normal at birth but deteriorate over time.

The symptoms of Usher syndrome can be controlled even though there is no cure. Hearing loss can be treated with various tools, including hearing aids, cochlear implants, and auditory training.

Disorders not commonly associated with hearing loss

Hearing loss can be a sign of several rare conditions. The following are a few examples:

Persons of any age can develop auditory neuropathy spectrum disease (ANSD).

People who have no family history of the disease can nevertheless be diagnosed. Hearing loss ranging from mild to severe results from insufficient signal transmission from the inner ear to the brain in this condition.

In at least 80% of cases, Waardenburg syndrome is a group of six inherited diseases that cause hearing loss or deafness. Those with pale blue eyes, different coloured eyes, two colours inside one eye, a white forelock (hair just above the brow), or grey hair in their early years are all examples of persons with this trait.

The syndrome of Vogt, Koyanagi, and Harada

Melanocytes, the specialised cells responsible for a person’s complexion, hair, and eye colour, are chronically inflamed by this inflammatory condition. As a result of its link with skin pigmentation, melanin is detected in the inner ear. Dysacusis, tinnitus, and vertigo are possible early indications of Vogt-Koyanagi-Haradi illness.

Hearing aids may compensate for some degree of hearing loss that most people undergo over time.

The Cogan complication

The immune system also targets eye and inner ear tissues.

Symptoms can come and go in waves.

Symptoms of the same illness can differ significantly across individuals. There is no guarantee that one’s intelligence will be affected. Hearing loss may not show any symptoms at all in children with Carpenter syndrome, but they are typically intellectually challenged.

In the case of Edith’s illness, Myhre syndrome, this is the circumstance. Hearing loss, mental retardation, and joint stiffness are among the most common symptoms among those who have been infected.

While Edith isn’t completely deaf, her hearing has diminished with time. That includes wearing her hearing aids at home, where she gets a lot of enjoyment out of them.

In an art workshop with more than 30 youngsters, her mother remarked that “many didn’t know she had hearing aids.”

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