Huntington’s Disease: Symptoms, Causes, Complications & Diagnosis

What is Huntington’s Disease?

Huntington’s disease also known as Huntington’s chorea is a rare, neurodegenerative condition that is mostly inherited. It targets the brain and disturbs the functioning of hands, feet, and face. This causes unsteady and involuntary movements and majorly affects activities like walking, talking, and swallowing as the disease progresses. Simultaneously, it triggers emotional changes and leads to memory issues and mood swings.

This neurological disorder affects different parts of the brain, thereby affecting a person’s ability to talk, swallow, think, walk, and reason. In later stages, full-time nursing care becomes vital. The condition can become fatal, too; thus, it’s important to treat the symptoms early. There is no permanent cure for Huntington's disease; its symptoms can only be managed with treatment.

The Onset of Huntington's Disease

The usual onset of Huntington’s disease is observed in the 30s to 50s but one can’t deny the juvenile onset of the condition. It requires genetic testing and certain blood tests to confirm the disorder. Huntington’s develops phase by phase with symptoms initially but as it progresses it tends to become more acute. 

Medications are known to manage and treat the condition but none of the therapies can arrest or reverse the physical and mental damage caused by Huntington’s disease.

How Does it Affect The Brain?

Huntington’s protein is responsible for damage to brain cells and neurons. It progresses by damaging the area of the brain that controls body movement which is the basal ganglia. In the next step, Huntington’s disease affects the brain’s cortex and decreases the functioning of mental ability, decision-making powers and memory.

Symptoms of Huntington’s disease

Huntington’s disease might show signs and symptoms at any age between 30s to 50s. It can present motor, cognitive or psychiatric symptoms however; the progress of the disease is represented as early, middle or late stages. There can be a significant difference in symptoms depending upon the age and stage of Huntington’s disease.

Huntington’s disease targets the brain that determines to affect the major functioning of the human body. Symptoms of the disease that occur on a primary basis may differ from person to person. There can be dominant signs of one function than another. The symptoms can be divided and can include-

Movement Disorders

Huntington’s disease is known to show movement disorder with voluntary and involuntary impairments. This includes-

• Uncontrolled or random movements
• Lack of coordination
• Writhing motions
• Muscle rigidity or muscle contracture (dystonia)
• Slow saccadic eye movements
• Issues with swallowing
• Slurred speech
• Difficulty in focus or multitasking
• Sleep disturbances
• Abnormal posturing (at a later stage)
• Abnormal facial expression

Cognitive Disorder

It can include-

• Lack of behavioral ability
• Dementia
• Memory deficits
• Difficulty in learning or remembering new information
• Problems in organizing, planning or focusing on a task
• State of confusion
• The problem in remembering own behavior
• Forgetfulness
• Emotional outburst
• The severe case might go through three different types of memory loss- episodic (memory of one’s life), procedural (memory of the body to perform activities) and working memory)

Psychiatric Disorders

Symptoms of psychiatric disorders include-

• Depression, caused by damage or injury in the brain due to frequent changes in the brain function
• Social detachment
• Fatigue
• Anxiety
• Aggression
• Hyper-sexuality
• Constant irritation
• Consistently thinking about death or suicide
• Lack of energy

As the disease progresses, the later stage shows abnormalities in organs. The patient might suffer from cardiovascular disorders, impaired glucose tolerance, testicular atrophy or muscle atrophy. Other psychiatric disorders include obsessive-compulsive disorder, impulsive behavior, or bipolar disorder.

Causes of Huntington's Disease

A gene mutation on chromosome number 4 causes Huntington's disease. Generally, the gene produces huntingtin protein (HTT), but after mutation, it gets larger, which is toxic. This, in turn, damages the brain cells. There are usually 36 or fewer repeats of the CAG (cytosine, adenine and guanine), the building blocks of the DNA in a normal person. But, in Huntington's disease, the repeats are more in the huntingtin protein that causes the devastating symptoms of this disease.

There are various mysteries related to how it happens, and researchers are still looking for solutions.

As it is a genetic disorder, it passes from one generation to another when the mutant copy of the gene copy is inherited. Some offspring may not get this disease as it’s also an autosomal dominant disorder. A child can inherit a typical copy of the gene instead of a mutated one, as the person will have both copies.

Diagnosis of Huntington’s Disease

A team of neurologists, physicians, physiotherapists, and nurses helps you to perform the diagnosis. The balance and coordination are closely evaluated to examine the functioning. Diagnosis includes-

• Blood test
• Medical history
• Psychological examination
• Physical examination
• Genetic counseling
• Genetic testing
• Positron emission tomography
• Magnetic resonance imaging (MRI)
• CT Scan

Treatment For Huntington’s Disease

Huntington’s disease is inherited genetically. The treatment of Huntington’s disease involves various therapies, diet plans, medications, and speech therapy. Although the disease is almost incurable and requires long-term treatment it can be helpful to manage the person suffering from Huntington’s disease. It helps to improve the quality of life.

• Therapy for weight management and treating malnutrition is an essential step to help with nutrition management in Huntington’s disease. Non-invasive and non-medication-based methods are included to manage risks and prevention.

Psychological disorders are managed by-

• Antidepressants to help relieve depression
• Mood stabilizers to decrease anxiety and mood swings
• Antipsychotic drugs to help issues of angry outbursts, hallucinations

To control the level of chorea (abnormal involuntary movement disorder), common medicines can be-

• Tetrabenazine
• Deutetrabenazine
• Haloperidol
• Other combination medicines are used as per observation and diagnosis.

Complications of Huntington’s Disease

Complications of Huntington’s disease can include-

• Functional disabilities
• Clinical depression
• Infections
• Injuries
• Inability to swallow

Prevention of Huntington’s Disease

Huntington’s disease cannot be prevented or planned. It requires genetic counseling to identify the type and stage of the disorder. The symptoms of Huntington’s disease take years to develop and progress. If managed properly, it can help to improve the quality of life. 

Management of Huntington’s Disease

Treatment of Huntington’s disease aims to decrease the abnormal huntingtin protein effectively. Depending upon the condition of the patient and dominant symptoms treatment differs from physical therapy, medications, counseling, or physiotherapy. 

Management of Huntington’s disease requires supportive surroundings of family and friends. Effective treatment and regular healthcare assistance are required to handle the uncertain signs and symptoms. Although Huntington’s disease is not fatal and regular exercise, appropriate diet plans, enough nutritional intake, support groups, physio sessions can help in the management of the condition.

Conclusion

A disorder like Huntington’s is an uncommon, inherited disease. Genetic counseling before planning a pregnancy can save your child from the chances of Huntington’s disease. Seek help from your healthcare assistant to get better insights on your health for management and treatment.