Huntington’s disease causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance and is the result of genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. It is a hereditary condition, passed down generations through a mutation in the normal gene. The disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent.
A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.Those who do not inherit the HD genewill not develop the disease and cannot pass it on to subsequent generations. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty eating and swallowing. The rate of disease progression and the age of onset vary from person to
As many symptoms of Huntington’s disease are common to other conditions as well, a detailed physical and neurological examination is usually needed. As it is an inherited disease, a thorough family history of the disorder is often the most important part of the diagnosis. Special blood tests can help doctors determine your likelihood of developing Huntington’s disease. A CT scan of the head can evaluate the scope and scale of brain cell damage and loss of brain tissue. An MRI scan or a PET scan may also be used.
There are many medicines that help patients deal with the symptoms including unusual movements, hallucinations and delusional thoughts caused by Huntington’s disease. As depression and suicide are common among those with Huntington’s disease, antidepressants and anti-anxiety medications may be prescribed to treat these symptoms.Apart from medication, the following therapies can also be recommended by doctors to mitigate the symptoms and manage the disease:
Speech therapy:Huntington’s disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve the ability to speak clearly or teach patients to use communication devices.
Physical therapy: The patient is taught exercises that enhance strength, flexibility, balance and coordination.
Occupational therapy:An occupational therapist can assist the person with Huntington’s disease, family members and caregivers on the use of assistive devices that improve functional abilities such as handrails at home, assistive devices for activities such as bathing and dressing, and eating and drinking utensils adapted for people with limited fine motor skills
For the diagnosis and management of this degenerative disease, doctors at GIN use the most advanced of technologies and procedures currently available to diagnose the condition and manage and mitigate its symptoms
Your doctor may order tests for assessing the structure or function of the brain. These may include:
- Brain-imaging tests. These images reveal structural changes at particular sites in the brain affected by Huntington’s disease. These tests can also be used to rule out other conditions that may be causing symptoms. The imaging technologies may include MRI, which can produce detailed cross-sectional and 3-D images of the brain, or CT, which produces cross-sectional images.
- Electroencephalogram (EEG). Your doctor may order an EEG if you have experienced any seizures. Certain abnormal patterns in this activity may indicate problems likely to contribute to seizures.
Genetic counseling and testing:If symptoms strongly suggest a diagnosis of Huntington’s disease, the doctor may recommend a genetic test for the defective gene. This test can confirm the diagnosis, and it may be valuable if there’s no known family history of Huntington’s disease or if no other family member’s diagnosis was confirmed with a genetic test.
A genetic test can be given to someone who has a family history of the disease but shows no signs or symptoms. This is called predictive testing. The test result has no treatment benefit, and it doesn’t indicate when disease onset will begin or what symptoms are likely to appear first.