Recently, a groundbreaking treatment has emerged for one of the world’s most severe diseases, prompting a closer examination of its symptoms.
Huntington’s disease affects over 40,000 individuals in the United States, with symptoms typically appearing between 30 and 50 years of age.
The disease causes the deterioration of brain cells by altering the Huntington protein, essential for nerve cell growth and function.
Huntington’s disease is often characterized as a combination of dementia, Parkinson’s, and motor neuron disease.
If a parent possesses the gene, their offspring have a 50% chance of inheriting it.
According to the Mayo Clinic, those diagnosed with Huntington’s disease typically have a life expectancy of 10 to 30 years following symptom onset.
In a remarkable development, scientists in the UK have managed to significantly slow the progress of Huntington’s disease, achieving up to a 75% reduction in progression.
Researchers from University College London observed that patients who would typically deteriorate over one year instead took four years to experience the same level of decline after the treatment.
Professor Sarah Tabrizi, director of UCL’s Huntington’s Disease Centre, told the BBC, “We never in our wildest dreams would have expected a 75 percent slowing of clinical progression,” describing the results as ‘spectacular.’
This revolutionary therapy involves gene editing delivered directly into the brain through a demanding 12 to 18-hour surgery. A modified virus is used to distribute new genetic instructions, which inhibit the harmful protein responsible for the disease.
While the therapy is anticipated to be costly and may not be suitable for everyone, researchers suggest it could potentially offer lifelong benefits.
UniQure, the company responsible for the treatment, intends to apply for accelerated approval from the US Food and Drug Administration (FDA) early next year, with further applications planned for the UK and European markets.
The Mayo Clinic outlines that Huntington’s disease affects three primary aspects: movement, cognition, and mental health.
Individuals may experience difficulties with movement, such as involuntary motions like jerking, twisting, or writhing of the arms, legs, face, or tongue, known as chorea.
Signs might also include rigid muscles, awkward walking, compromised balance, unusual eye movements, and trouble swallowing and speaking.
Coordination challenges may make routine tasks, like holding a cup, writing, or buttoning clothing, extremely difficult.
Huntington’s disease can also impair cognitive functions, causing trouble with planning and organization.
These cognitive issues may present as difficulty maintaining focus on tasks, fixation on a single thought or action, and reduced self-control.
Other symptoms might include slower thinking and speech, along with challenges in learning new information.
The disease can also lead to mental health changes.
Such changes may manifest as depression, anxiety, mood swings, and compulsive behaviors.
Progression of the disease might also result in weight loss.
It’s crucial to consult with a healthcare professional if there are concerns, as many conditions share symptoms with Huntington’s disease, and accurate diagnosis is essential.