Cause: Ms. Zhang's mother is over 60 years old this year. Her family found that her walking and balance were impaired, accompanied by twisted, twitching, unstable and incoherent gait. After going to the hospital, the doctor diagnosed her as "ataxia" according to her clinical manifestations.
Development: Ms. Zhang's husband cares about her mother-in-law's illness and understands her illness and treatment methods online. He found that her clinical manifestations were very similar to * * * ataxia and Huntington's disease, and he was more inclined to Huntington's disease. The key point is that both diseases are hereditary, which means that his wife, Ms. Zhang, probably inherited her mother-in-law's pathogenic genes. Out of concern for his wife's health, he found Xue Jiajin on the Internet, and Xue Jiajin's health commissioner suggested that his wife decode Huntington's disease gene first. The next day, Ms. Zhang mailed the collected 3 ml anticoagulant samples to the Beijing headquarters of Gene, and began the genetic analysis of her Huntington's disease.
Results: Seven days later, the results of pathogenic gene analysis showed that Ms. Zhang had 17 and 42 repeats in the insert of IT 15 gene, which had the characteristic mutation of Huntington's disease IT 15 gene. In other words, Ms. Zhang's mother should be Huntington's disease, and Ms. Zhang unfortunately inherited her mother's pathogenic genes.
Knowing this result, Ms. Zhang and her husband are hard to accept and worried about their 8-year-old son. Huntington's disease is inherited in a dominant way. As long as one parent is sick, the children have a 50% chance to inherit.
With uneasy psychology, the couple decided not to live in worrying speculation (according to Ms. Zhang's husband, they were worried about their son's crooked mouth and mental torture in those three days). Three days later, their son's blood sample was sent to Xue Jiajin Company for analysis. Fortunately, God blessed this family, and their son did not inherit the mother's pathogenic gene.
According to the analysis of Xue Jiajin's test, Ms. Zhang's mother should be "Huntington's disease" (diagnosed after the test) and should be treated as "Huntington's disease", otherwise the treatment will be ineffective and the treatment opportunity will be delayed.
For Ms. Zhang, although she carries the pathogenic gene, on the other hand, it is also gratifying. Because of her husband's health awareness, she knew the health risks of her body in advance. At the age of 32, she hasn't had any clinical symptoms yet, so she still has a lot of time to understand the condition, take preventive measures and communicate with doctors how to delay the occurrence of the disease. And his son is in good health, which is undoubtedly the best gift and the greatest comfort for parents!
1. What is Huntington's disease?
Huntington's disease (HD) is a delayed neurodegenerative genetic disease, and the onset age is generally 30-50 years old. The disease mainly attacks basal ganglia and cerebral cortex, and has high regional selectivity. The injury of basal ganglia motor pathway leads to excessive exercise, which is the main clinical symptom of Huntington's disease-dance-like exercise; The damage of cerebral cortex leads to cognitive dysfunction, and dementia is more common in Huntington's disease.
The main cause of Huntington's disease is the abnormality of Huntington gene, which leads to the abnormality of Huntington protein, the metabolite of Huntington's disease. Huntington protein is unusually easy to adhere and accumulate into blocks, which damages some brain cells, especially those related to muscle control, leading to gradual degeneration of the nervous system, diffusion of nerve impulses, dyskinesia, uncontrollable convulsions, which can develop into dementia or even death.
Second, the clinical manifestations
1, abnormal mood: become indifferent, irritable or depressed, have language disorder, and have a stubborn temper.
2. Involuntary movements of fingers, legs, face or body.
(1) Early stage: abnormal eye movements.
(2) metaphase: heterotopia of face, neck and back caused by long-term muscle contraction; Involuntary movement; Obstacles in walking and balance; Dancing movements, wriggling movements, convulsions, unsteady swaying and incoherent gait; It is difficult to do activities that require dexterity; Unable to control the speed and intensity of the action; Slow response; General weakness; Lose weight and so on.
(3) Late stage: stiff body; Slow movement, difficulty in starting or continuing exercise; Severe chorea; Severe weight loss; Unable to walk; Can't talk; Difficulty in swallowing and danger of suffocation; Life can't take care of itself at all.
3, mental decline: judgment, memory, cognitive ability decline.
Thirdly, the genetic model of pathogenic genes.
The gene of Huntington protein abnormality is inherited in a dominant way, so as long as one parent has Huntington's disease, the child has a 50% chance of inheriting the disease. Moreover, the disease usually has obvious symptoms around the age of 40, so when patients find the disease, they often pass on the pathogenic genes to the next generation.
The power of understanding:
Knowing the risk of disease, we have more time to change our lifestyle and find a cure. Maybe the illness will be delayed, or even not.
Knowing the cause, we will make a more accurate treatment plan, and perhaps we will not miss the treatment time and waste money;
Yes, we will get rid of the shackles of spirit and don't have to live in unknown fear every day!