Definition of Huntingdon’s Chorea/Huntington’s Disease

Huntington’s disease, also known as Huntingdon’s chorea, is a hereditary neurodegenerative disorder that affects the central nervous system. It is characterized by the gradual deterioration of certain brain regions, leading to physical, cognitive, and emotional impairments.

Clinical Features

The disease presents with a wide range of symptoms, which typically develop during mid-adulthood but can appear at any age. These symptoms may include:

  • Chorea: Involuntary, random, and jerky movements that affect various body parts.
  • Cognitive impairments: Difficulties with memory, concentration, planning, and decision-making.
  • Psychiatric symptoms: Depression, anxiety, personality changes, irritability, and social withdrawal.

Genetic Cause

Huntington’s disease is caused by a mutation in the HTT gene, which leads to the production of abnormal huntingtin protein. The expansion of a CAG trinucleotide repeat within the gene is responsible for the disease’s inheritance pattern.

Progression and Prognosis

The symptoms of Huntington’s disease progressively worsen over time, eventually leading to severe disability. The rate of deterioration varies among individuals, with an average lifespan after diagnosis of about 15-20 years. However, some individuals may live for several decades after symptom onset.

Diagnosis and Treatment

Diagnosing Huntington’s disease involves genetic testing to detect the presence of the HTT gene mutation. Currently, no cure exists for the disease; treatment focuses on managing symptoms and improving quality of life. This may involve medications to control movements and psychological interventions to address psychiatric symptoms.

Impact on Families

Huntington’s disease has significant emotional, social, and financial implications for affected individuals and their families. The hereditary nature of the disease means that each child of an affected parent has a 50% chance of inheriting the mutated gene.

It is essential for individuals at risk of Huntington’s disease to undergo genetic counseling and testing to make informed reproductive decisions and prepare for potential future health challenges.