Huntington’s disease

Overview   

Huntington’s disease is a rare inherited illness that makes nerve cells in the brain break down over time. This leads to problems with movement, thinking, and emotions. 

People might start showing symptoms of Huntington’s at different times, but usually around their 30s or 40s. As time goes on, it becomes harder to walk, talk, and swallow. People’s feelings and thoughts can also change a lot, with mood swings and memory troubles. If someone gets the disease before they’re 20, it’s called juvenile Huntington’s disease, and it has slightly different symptoms and tends to get worse more quickly. 

There are medicines that can help with some of the symptoms of Huntington’s disease. But these treatments can’t stop the physical, mental, and behavior problems that come with the disease. 

Symptoms    

Huntington’s disease can cause problems with movement, thinking, and emotions. The first signs can be different for each person. Some problems might be more noticeable or affect daily life more than others, but this can change as the disease goes on.  

• Movement disorders: Huntington’s disease affects movement, causing both involuntary jerking (chorea) and issues with typical movements. This includes muscle problems like stiffness (dystonia), slow eye movements, trouble with walking and balance, as well as difficulties with speaking and swallowing. These movement problems can impact a person’s ability to carry out daily activities and maintain independence. 

• Cognitive disorders: Huntington’s disease often brings problems with thinking. These can include struggling to organize tasks, focus, or prioritize. People might get stuck on one thought or action (perseveration) and can act without thinking due to poor impulse control, leading to outbursts and risky behavior. Awareness of their own abilities and actions might be lacking. Thinking might also slow down, making it hard to process thoughts and find words. Learning new things could become difficult too. 
• Psychiatric disorders: Depression is the primary psychiatric disorder associated with Huntington’s disease. It emerges not just as a reaction to the diagnosis, but due to brain damage and resulting changes in brain function. Common signs include feelings of sadness, irritability, and apathy, along with social withdrawal, insomnia, and low energy. Thoughts of death or suicide might occur too. Other psychiatric disorders linked to Huntington’s include obsessive–compulsive disorder, marked by intrusive thoughts and repetitive actions, as well as mania that brings high mood, impulsivity, and inflated self–esteem. Bipolar disorder, involving alternating depression and mania episodes, can also arise. Weight loss is prevalent as the disease progresses. 

Symptoms of juvenile Huntington’s disease 

The onset and progression of Huntington’s disease in younger individuals might differ from adults. Early stages of the disease often present with issues such as: 

• Behavioral changes: The person is having trouble focusing, their school performance has quickly gotten worse, and they’re also showing behavioral issues. 

• Physical changes: There are noticeable physical changes, including stiff and tight muscles that impact how they walk, particularly in young children. Additionally, they might experience trembling or small uncontrollable movements, have frequent falls or appear clumsier than usual, and may even have seizures. 
  

If you observe alterations in your physical actions, emotional well–being, or cognitive capabilities, it is recommended to consult your healthcare professional. The indications and effects associated with Huntington’s disease may arise due to various other conditions. Thus, seeking a timely and comprehensive assessment is crucial. 

Causes  

Huntington’s disease results from an inherited genetic variation in a single gene and follows an autosomal dominant pattern, requiring only one atypical gene copy for the disorder to manifest. Except for sex chromosome genes, individuals inherit two gene copies, one from each parent, who might transmit either the atypical or the healthy version of the gene.