Huntington’s Disease is an inherited disease that is rare but causes progressive degeneration of the nerve cells present in the brain. The Disease has a broad impact on someone’s functional abilities and generally results in cognitive, psychiatric, and movement disorders. The symptoms of the health disease can develop at any time, but they often appear when a person is in their 30s or 40s. However, if the health condition appears before the age of 20, then the health condition is known as Juvenile Huntington’s Disease. And when the health condition develops early, the symptoms experienced are different, and the health condition may progress faster than expected. Though the medications can help manage the symptoms, the treatments cannot prevent the mental, behavourial and physical decline associated with the health condition.

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The beginning and disease progression in the younger ones can be slightly different from adults. The issues or signs and symptoms include Physical Changes

Tremors or slight involuntary movements

Seizures

Contracted and rigid muscles affecting gait

Frequent clumsiness or falls

Behavioural changes

A rapid or significant drop in students overall school performance

Difficulty paying attention

Huntington’s Disease is caused due to an inherited defect in a single gene. The Disease is an autosomal dominant disorder that means a person requires only one copy of the defective gene to produce the disorder. A parent with a defective copy could pass along the gene’s defective copy or the healthy copy. Therefore, each child in the family has a 50 % chance of inheriting the gene, which causes the genetic disorder.

You gotta see a doctor immediately if you notice any movement changes or changes in mental ability and emotional state. Complications involved! After the Disease starts, a person’s functional abilities gradually worsen over time. The disease progression and duration vary. The time from the emergence of Disease to death is generally about 10 to 30 years, and when it comes to Juvenile Huntington’s Disease, it is about ten years after the symptoms develop. The clinical depression linked with the Disease may augment the suicide risk. Eventually, a person with the Disease needs help with all the daily activities. Some common causes of death associated with the Disease include

Injuries related to falls

Pneumonia or other infections

Complications associated with the inability to swallow

People with a family history of the Disease are generally concerned about it and whether they may pass their disease gene to their children also. Such people may consider genetic testing, and the at-risk parents considering this testing must meet with a genetic counsellor. A genetic counsellor will suggest the potential risks. Also, another option for the parents is to remove the Vitro fertilization and preimplantation genetics where the eggs are removed from the ovaries and further fertilized with fathers’ sperm.

Diagnosis of the Disease

Huntington’s Disease’s primary diagnosis is based on the doctors’ questions, the family’s medical history review, a general physical examination, and psychiatric and neurological examinations. Neuropsychological testing The neurologist can perform several standardized tests to verify your

• Reasoning
• Memory
• Spatial Reasoning
• Mental agility
• Language skills

Brain function and imaging

The brain function and imaging tests include CT scans or MRI tests to check the detailed images of the brain.

Genetic testing and counselling

If the symptoms suggest the disease, the doctors may recommend genetic testing for the defective genes. The test can perform the diagnosis and may help identify the health condition early.

Predictive genetic test

Predictive genetic testing can be performed if a person already has a family history of the disease but does not experience any symptoms. The tests are only to be performed after a genetic counsellor’s consultation.

Huntington’s Disease is a progressive brain disorder, which causes emotional issues, uncontrolled movements, and thinking ability loss. If you have a family history of the Disease or you think that you are experiencing some of the symptoms mentioned above, the chances are that you gotta see your doctor.