Micha Had Huntington’s Disease
Huntington’s disease (HD) is a brain disease that is passed down in families from generation to generation. It is caused by a mistake in the DNA instructions that build our bodies and keep them running. DNA is made up of thousands of genes, and people with HD have a small error in one gene, called huntingtin. Over time this error causes damage to the brain and leads to HD symptoms...
...HD causes deterioration in a person’s physical, mental, and emotional abilities, usually during their prime working years, and currently has no cure. Most people start developing symptoms during adulthood, between the ages of 30 to 50, but HD can also occur in children and young adults (known as juvenile HD or JHD). HD is known as a family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at risk of inheriting the disease.
Symptoms of Huntington’s Disease
- The symptoms of HD can vary a lot from person to person, but they usually include:
- Personality changes, mood swings & depression
- Forgetfulness & impaired judgment
- Unsteady gait & involuntary movements (chorea)
- Slurred speech, difficulty in swallowing & significant weight loss
Most people with HD experience problems with thinking, behavior, and movements. Symptoms usually worsen over the course of 10 to 25 years and affect the ability to reason, walk, and talk. Early on, a person with HD or their friends and family may notice difficulties with planning, remembering, and staying on task. They may develop mood changes like depression, anxiety, irritability, and anger. Most people with HD become “fidgety” and develop movements of the face and limbs known as chorea, which they are not able to control.
Because of the uncontrolled movements (chorea), a person with HD may lose a lot of weight without intending to and may have trouble walking, balancing, and moving around safely. They will eventually lose the ability to work, drive, and manage tasks at home, and may qualify for disability benefits. Over time, the individual will develop difficulty with speaking and swallowing, and their movements will become slow and stiff. People with advanced HD need full-time care to help with their day-to-day activities, and they ultimately succumb to pneumonia, heart failure, or other complications. The symptoms of HD are sometimes described as having ALS, Parkinson’s, and Alzheimer’s – simultaneously.
The Huntingtin Gene & Protein
The DNA error that causes HD is found in a gene called huntingtin. This gene was discovered in 1993. Everyone has the huntingtin gene, but only those who inherit the mistake, known as the HD mutation, will develop HD and risk passing it on to their children. Genes are made up of the nucleotide “letters” A, G, C, and T, which form a code that is read in groups of three. HD is caused by a stretch of the letters C-A-G in the huntingtin gene which repeats over and over, too many times…CAGCAGCAGCAGCAG. This is known as a CAG repeat expansion. In the huntingtin gene, most people have around 20 CAG repeats, but people with HD have around 40 or more. Every person who has this CAG repeat expansion in the HD gene will eventually develop the disease, and each of their children has a 50% chance of developing HD.
Our genes are like an instruction manual for making proteins, the machines that run everything in our bodies. The huntingtin gene (DNA) contains instructions that are copied into a biological message (RNA) which makes the huntingtin protein. The huntingtin protein is very large and seems to have many functions, especially as the brain is developing before birth, but it is not fully understood. We know that the extra CAG repeats in people with HD cause the huntingtin protein to be extra long and difficult to maintain, which makes it difficult for it to do its job. Over many years, this “mutant” huntingtin protein forms clumps in brain cells and causes them to become damaged and die. The most vulnerable part of the brain in HD is called the striatum, and it controls movement, mood, and memory. Damage to the striatum over time is what causes the symptoms of HD.
Treating Huntington’s Disease
There is currently no cure or treatment that can halt, slow, or reverse the progression of the disease. However, there are many treatments and interventions that can help to manage HD symptoms. A neurologist, psychiatrist, or nurse with expertise in HD may prescribe medications to ease anxiety and depression, help with troublesome behaviors, and calm uncontrolled movements. A psychologist or social worker can provide individual or group counseling. Physical and occupational therapists can work with patients and families to develop strength, move safely, and adjust the home environment and activities as needed. Speech-language pathologists and nutritionists can help with communication, eating and swallowing safely, and combating weight loss. Clinician researchers may suggest participation in HD clinical trials.
Social and community support is an important part of HD care. Family, friends, loved ones, and companions often assume many of the HD person’s former responsibilities and help with daily activities and care routines when they can no longer do so themselves. Caregivers and kids may also need support for the challenges and stresses that come with HD.
Source: https://hdsa.org/what-is-hd/overview-of-huntingtons-disease/
Steve Cohen
Steve Cohen is the founder of Apple of His Eye
This email address is being protected from spambots. You need JavaScript enabled to view it.
Subscribe to Our Newsletter
Download Our Latest Newsletter