Late Onset Huntington Disease is a neurodegenerative disorder that affects the nervous system. It typically occurs in people aged 35-55 years old. The word "Huntington" is spelled with the phonetic transcription /ˈhʌntɪŋtən/, meaning the "h" is pronounced with a clear "h" sound, followed by a short "u" sound, and then the "nt" sound. The word "disease" is spelled with the phonetic transcription /dɪˈziːz/, which includes a long "ee" sound followed by a "z" sound at the end. Overall, the phonetic transcription helps to clarify the correct pronunciation of this complex medical term.
Late-Onset Huntington's Disease (LOHD) is a rare neurodegenerative disorder characterized by the progressive degeneration of certain nerve cells in the brain. It is a later version of Huntington's disease, typically diagnosed in individuals over the age of 40.
This genetic condition is caused by a mutation in the HTT gene, which leads to the production of an abnormal form of the protein huntingtin. As the disease progresses, this mutated protein accumulates in certain brain structures, leading to the death of neurons and subsequent impairment of motor, cognitive, and psychiatric functions.
The symptoms of Late-Onset Huntington's Disease vary from person to person, but commonly include uncontrollable movements (chorea), decline in cognitive abilities, behavioral changes, and mood disturbances. These symptoms gradually worsen over time, leading to more severe disability.
Diagnosis of LOHD is typically based on the presence of symptoms and may involve genetic testing to confirm the mutation in the HTT gene. As the disease progresses, additional neurological and psychiatric evaluations may be conducted.
Unfortunately, Late-Onset Huntington's Disease currently has no cure or effective treatments that can halt or reverse its progression. However, various interventions such as medications and therapies can help manage and alleviate specific symptoms, aiming to improve the quality of life for affected individuals.
Due to its late onset and the similarity of symptoms with other neurodegenerative disorders, LOHD can sometimes be misdiagnosed, necessitating specialized medical expertise. Ongoing research continues to focus on understanding the underlying mechanisms of the disease and developing potential therapeutic interventions.