Huntington’s disease: Causes, Symptoms, Progression and Treatment

Everything you need to know about Huntington’s disease

Causes of Huntington’s disease:

Huntington’s disease, also known as Huntington’s chorea, is a hereditary neurodegenerative disease caused by a mutation in the huntingtin gene on chromosome 4. This genetic mutation leads to the production of the abnormal protein huntingtin, which is harmful to nerve cells in the brain, particularly in certain regions such as the striatum. Huntington’s disease is inherited in an autosomal dominant manner, which means that one parent can pass on the mutated copy of the gene to cause the disease. The exact function of the mutated protein and the mechanisms that lead to the neurodegenerative pathology are still being investigated.

Symptoms of Huntington’s disease:

The symptoms of Huntington’s disease are varied and can include motor, cognitive and psychiatric problems. Motor symptoms include uncontrolled movements, called “choreas”, which often get worse with age and disease progression. In addition, symptoms such as muscle stiffness, slow movements and balance problems may also occur. Cognitive symptoms include memory impairment, problems with attention and executive function, and difficulty planning and organizing activities. Psychiatric symptoms such as depression, anxiety, obsessive-compulsive disorder and psychosis are also common.

Progression of Huntington’s disease:

The course of Huntington’s disease is progressive and leads to a gradual loss of cognitive and motor functions. Symptoms usually begin in middle age, often between the ages of 30 and 50, although there are also juvenile forms of the disease that can occur in childhood. The course of the disease can vary, but generally the severity of symptoms increases over time, which can have a significant impact on quality of life. In advanced stages of the disease, sufferers may become dependent on care and require intensive support.

Treatment of Huntington’s disease:

There is no cure for Huntington’s disease, and treatment focuses on relieving symptoms and improving quality of life for those affected. Medication may be prescribed to control motor symptoms and treat psychiatric problems. Physiotherapy and occupational therapy can help to improve motor function and maintain independence in daily life. Psychological support and counseling can also be helpful in dealing with the emotional and social impact of the disease.

Summary:

Huntington’s disease is a hereditary neurodegenerative disorder caused by a mutation in the huntingtin gene. Symptoms include motor, cognitive and psychiatric problems and worsen over time. Treatment aims to alleviate symptoms and improve quality of life for those affected, although there is no cure. Early diagnosis and holistic care are crucial to enable those affected to enjoy the best possible quality of life.