Huntington's disease, also known as Huntington's chorea, is an inherited neurological disorder that affects movement control, as well as the cognitive and emotional aspects of those who suffer from it. First described in 1872 by American physician George Huntington, this progressive disorder has been the subject of extensive research to understand its causes, symptoms, phases and treatments.
Causes of Huntington's disease
Huntington's disease is caused by a genetic mutation on chromosome 4 that affects the huntingtin gene. This gene provides instructions for the production of a protein called huntingtin. In individuals with the genetic mutation associated with Huntington's disease, an abnormally long version of the huntingtin protein, known as mutated huntingtin, is produced.
The accumulation of mutated huntingtin in nerve cells is thought to play a role. key role in the development of the disease. This buildup leads to damage to nerve cells, especially in a region of the brain known as the striatum, which controls movement and behavior.
Inheritance of the disease
The Huntington's disease follows an autosomal dominant inheritance pattern, meaning that a single mutated gene inherited from one parent is enough to develop the disease. If one parent has the genetic mutation associated with Huntington's disease, each child has a 50% chance of inheriting the mutation and, therefore, developing the disease.
Symptoms of the disease Huntington's disease
The symptoms of Huntington's disease can vary in severity and present differently in each affected person. Signs and symptoms can manifest in three main areas: involuntary movements, cognitive problems and emotional changes.
Involuntary movements
Chorea, which gives its name to Huntington's disease, refers to to involuntary and uncontrolled movements that can be sudden and rapid. These choreic movements can affect different parts of the body and worsen with anxiety or stress.
In addition to chorea, patients with Huntington's disease may experience other motor problems, such as stiffness, slowness of movement, and difficulty coordinating movements, which can affect the ability to walk, talk, or swallow.
Cognitive problems
Cognitive problems associated with Huntington's disease may include difficulties with concentrate, learn and remember information, as well as to plan and make decisions. As the disease progresses, these cognitive problems can become more pronounced, affecting the ability to carry out daily tasks and maintain independence.
Emotional changes
Emotional changes are common in patients with Huntington's disease and include irritability, impulsivity, depression, anxiety, and apathy. These mood changes can affect interpersonal relationships and the quality of life of the patient and their caregivers.
Phases of Huntington's disease
Huntington's disease is characterized by the presence of different phases throughout its progressive course, although it is important to keep in mind that the duration and severity of each phase may vary between patients.
Early phase
In the Early in the disease, signs and symptoms can be subtle and difficult to detect. Cognitive problems can manifest before abnormal movements appear, making early diagnosis of the disease difficult. In this stage, patients may experience mood swings and difficulties with daily tasks.
Intermediate phase
As the disease progresses, motor and cognitive symptoms intensify, leading to which can significantly affect the patient's quality of life. Involuntary movements become more pronounced, cognitive ability decreases, and emotional changes become more evident. Patients may experience difficulties communicating and carrying out basic activities of daily living.
Advanced Phase
In the advanced phase of Huntington's disease, patients often experience a loss of significant motor, cognitive and emotional function. Choreic movements can be very severe, the ability to walk and talk is severely affected, and assistance may be required to perform basic activities. At this stage, patients may require 24-hour care.
Treatment of Huntington's disease
At this time, there is no curative treatment for Huntington's disease. However, there are therapeutic options that can help relieve symptoms and improve patients' quality of life.
Pharmacological treatment
Medicines used in the treatment of Huntington's disease They are aimed at controlling motor and emotional symptoms. Medications that act on neurotransmitters in the brain can help reduce irritability, depression and anxiety, as well as minimize involuntary movements.
Occupational therapy and physical therapy
The Occupational therapy and physical therapy may be beneficial for patients with Huntington's disease, helping to maintain independence, mobility, and functionality in daily activities. These therapies can also help improve motor coordination and prevent complications derived from rigidity and immobility.
Emotional and psychological support
Emotional and psychological support is essential for patients with Huntington's disease and its families. Support groups, individual and family therapy, as well as education about the disease can help to cope with emotional challenges and improve quality of life in all phases of the disease.
Research and clinical trials
Continued research into Huntington's disease is essential to find new therapies that can slow or stop the progression of the disease. Clinical trials offer the opportunity to test experimental treatments and contribute to the advancement of knowledge about this neurodegenerative disease.
In conclusion, Huntington's disease is an inherited neurological disorder that affects multiple aspects of function. brain and motor control. Through understanding its causes, symptoms, phases and treatments, intervention strategies can be developed that improve the quality of life of patients and their families. Comprehensive care and ongoing support are essential in the management of this progressive and debilitating disease.