Huntington's Disease

WHAT IS HUNTINGTON'S DISEASE?

Huntington’s disease (HD) is a rare genetic disease that affects the brain and gets worse over time. HD is passed down in families, which means if a parent has it, their children are at risk and an individual child has a 50% chance of inheriting the disease.

HD is caused by a mutation in DNA, specifically in the huntingtin gene. DNA is a code of letters containing instructions to make proteins for our bodies.

The huntingtin gene contains the instructions required to make huntingtin protein. In people with HD, the huntingtin gene is mutated so that the DNA letters C-A-G are repeated too many times. With these faulty instructions, our body makes a toxic version of the huntingtin. This toxic version is what makes our brain cells sick and causes the main symptoms of HD.

SYMPTOMS OF HUNTINGTON'S DISEASE

Huntington’s Disease (HD) is characterized by three main types of symptoms: impairments in movements, cognitive abilities, and mood.

Movement Impairments: People with HD may experience involuntary movements, which are often the first most noticeable symptoms. These movements, medically referred to as ‘chorea’, can disrupt walking, talking, and balance.

Cognitive Issues: HD also affects the brain, leading to difficulties in concentration, memory loss, and becoming overly fixated on certain thoughts or tasks.

Mood Changes: Perhaps the most challenging for families are the mood changes. Individuals with HD can experience anxiety, depression, or unexplained anger, sometimes resulting in drastic changes in behavior.

HD symptom onset usually begins in middle age between the ages of 30-40 and individuals with HD typically die 15-20 years after onset of symptoms.

It’s important to remember that HD affects everyone differently, and symptoms and disease progression can vary widely from person to person. While there is currently no cure for HD, treatments are available to manage symptoms and improve comfort. Supportive care, including therapy and counseling, are vital for both patients and their families.

Prevalence of Huntington's disease in Pakistan

In Pakistan, we don’t have exact numbers on how many people are affected by Huntington’s Disease. This is partly because it’s hard for individuals to access testing for HD in Pakistan and individuals also may choose not to get tested. Globally, a small number of people have HD — about 3 to 5 out of every 100,000. HD occurs in all races and is not gender specific. Males and females carry equal risk of inheriting the disease

Our team at the Huntington’s Disease Society of Pakistan (HDSOP) are working to find out more about how HD affects people in Pakistan. We are creating a community to support those with HD and their families, and we’re encouraging research to help us learn more and plan better care for the future.

Support

The Huntington Disease Society of Pakistan (HDSOP), is here to support families dealing with HD. We provide information, help create awareness, connect you with relevant doctors, provide resources and stand by you in advocating for the needs and rights of those affected by Huntington’s disease in Pakistan.

If you or your loved ones are facing challenges due to Huntington’s disease, please reach out to us. You are not alone, and we are here to help.