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Huntington’s Disease

Huntington’s Disease
October 24, 2022Nervous DisorderDepressionGene mutationSpeech problems

Huntington’s disease (HD) is a neurological condition. It is an inherited disease that results from a gene mutation. Toxic proteins collect in the brain and cause damage, leading to neurological symptoms.It has a wide-ranging impact, affecting movement, thinking, and mood.
 It attacks the brain, causing unsteady and uncontrollable movements (chorea) in the hands, feet and face. Symptoms get worse over time. They eventually affect walking, talking and swallowing. It’s also common to have changes in emotion (feelings) and thinking, such as mood swings and memory problems.

Huntington’s disease brain
Difference in two brains

Juvenile Huntington’s Disease
Typically, HD symptoms appear in middle age. But with juvenile Huntington’s disease (JHD), symptoms begin in childhood. In addition to the symptoms of the adult disease, early signs in children may include seizures and stiffness. Children with JHD most often inherit the disease from their fathers.

Symptoms –
HD affects a person both physically and mentally. Physical problems may start in small ways — for example, clumsiness or losing balance — and then get worse over time. If you have HD, you may develop –
•  Uncontrolled movements (chorea).
•  Emotional changes like mood swings, depression and irritability.
•  Problems with memory, focus and multitasking.
•  Slowed movements and speech.
•  Slurred speech.
•  Loss of hand coordination, such as being unable to hold a pencil.
•  Difficulty swallowing.

Symptoms

Stages –
Huntington’s disease can start at different ages in different people. It gets worse over time.
•   Early stage
Symptoms are easier to handle early in the disease. You might feel moody or clumsy and struggle with complex thinking. You may also have small uncontrollable movements, but typically, you can continue your everyday activities.

•  Middle stage
Physical and mental changes during the middle stage make working, driving and household upkeep impossible. You may begin to have trouble with swallowing, and you might lose weight. Your balance may be off, increasing your risk of falling.

You can still manage your personal care. Typically, you can handle bathing, getting dressed and eating on your own or with some help.

•  End stage
During the final stage of HD, you’ll need help with everything. You’re usually unable to leave bed. This is when most people receive care day and night.

Causes –
Huntington’s disease results from the mutation of a gene on chromosome number 4.

Cause of Huntington’s disease
Process of Huntington’s disease progression

A typical copy of the gene produces huntingtin (HTT), a protein. The gene with the mutation is larger than it should be. This leads to excessive production of cytosine, adenine, and guanine (CAG), the building blocks of DNA. Normally, CAG repeats 36 times or less, but in Huntington’s disease, it repeats 36 times or more.

This change results in a larger form of the HTT protein, which is toxic. As the toxic protein accumulates in the brain, it begins to damage certain brain cells.

If the repetition is 36–39, the person could develop Huntington’s disease but may not. If it repeats 40 times or more, a person will almost certainly develop the condition.

How is it passed on?
Huntington’s disease is an autosomal dominant disorder. This means a person can have it if they inherit only one copy of the gene with the mutation from either parent.

How Huntington’s disease could pass on?
Genetic transfer

A person with the gene mutation has one typical copy of the gene and one mutated copy. Any offspring will inherit either the typical copy or the mutated one. The child who inherits the typical copy will not develop Huntington’s disease. The child who inherits the copy with the mutation will.

Each child has a 50% chance of inheriting the gene mutation. If they inherit the gene with the mutation, each of their children will have a 50% chance of inheriting it. It can affect several generations.

Diagnosis –
A neurologist (a doctor specializing in the brain and nerves) will perform a physical exam. They will look for twitches and jerking as well as problems with your balance, reflexes and coordination. Your neurologist will also want to know if anyone else in your family has the disease.

You will have tests to rule out other conditions that cause similar symptoms and to confirm an HD diagnosis. Tests include:
•  Blood test.
•  Genetic testing.
•  Imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scan.

Treatment –
Huntington’s disease is currently incurable. Treatment cannot reverse its progression or slow it down.

Because HD affects you in various ways — physical, emotional and mental — you may need several types of treatment. Physical therapy, counseling and medications can work together to reduce your symptoms. A multi-disciplinary approach utilizing a neurologist, psychiatrist, genetic counseling, physical therapy, occupational therapy, speech therapy and other specialized fields can formulate a plan and address a patient’s individual needs.

To control chorea, doctors commonly prescribe:
•  Tetrabenazine (Xenazine®).
•  Deutetrabenazine (Austedo®).
•  Haloperidol (Haldol®).

To help with emotional symptoms, your doctor may recommend:
•  Antidepressants: Drugs that relieve depression include fluoxetine (Prozac®, Sarafem®) and sertraline (Zoloft®).

•  Antipsychotic drugs: To reduce angry outbursts, agitation and hallucinations, your doctor may recommend drugs such as risperidone (Risperdal®) and olanzapine (Zyprexa®).

•  Mood-stabilizing drugs: Medications like lithium (Eskalith®) decrease anxiety and prevent severe mood swings.

For more informative articles on Genetic diseases and other health related issues, please visit our website www.santripty.com and also feel free to consult with our experienced team of doctors, get benefits and stay healthy.

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