Recently, the Second Department of Encephalopathy of Xi'an Traditional Chinese Medicine Encephalopathy Hospital admitted a special patient. According to his family, the 32-year-old patient Wang Gang (pseudonym) from Yulin, Shaanxi Province, suddenly experienced involuntary movements three years ago, and his condition became more and more serious. In the past three years, he sought medical treatment everywhere inside and outside the province, but to no avail, so his family took Wang Gang to Xi'an Traditional Chinese Medicine Encephalopathy Hospital to seek further treatment. So, what's going on here?
After receiving difficult patients, the doctor will determine the condition of the patient
After coming to the hospital, Liu Jing, a second encephalopathy doctor, received Wang Gang, and found that Wang Gang had involuntary movements in his head, limbs and trunk, slightly higher muscle tone in both lower limbs, unstable gait, bilateral Babinski sign (-), and bilateral ataxia were not stable, which was considered to be an extrapyramidal disease.
When asking about her medical and family history, Liu Jing got more important information. Wang Gang's mother, grandfather, and aunt all had similar symptoms, and all of them have passed away. The definite genetic predisposition made Liu Jing suspect that a genetic disease was more likely.
"Combined with the patient's symptoms and initial examination, Parkinson's disease can basically be ruled out in extrapyramidal diseases, so whether it is Huntington's disease, Wilson's disease or torsional spasm needs to be ruled out by further investigation." Liu Jing said.
Although the scrore SWI showed a slight decrease in the symmetrical signals of bilateral lenticular nucleus, cerebellar dentate nucleus and bilateral midbrain substantia nigra, and a small amount of iron deposition was considered, it still could not fully explain Wang Gang's symptoms.
△ Wang Gang twisted his limbs involuntarily when he walked
At the age of 32, Wang Gang, who was in the prime of life, was suffering from illness, and his involuntary movements for many years had caused great trouble to his life, and he was refused to go out to work, and he was discriminated against when he communicated with others...... All kinds of life made Wang Gang see no hope. As the youngest son in the family, the eldest brother died due to trauma, so the old father, who raised his sons alone, was more eager to treat Wang Gang.
Knowing such a family situation, seeing the father and son, who were living in poverty and overcoming long distances, came to the hospital for medical treatment, all the medical staff of the Second Department of Encephalopathy hoped to help Wang Gang diagnose the disease as soon as possible and start treatment as soon as possible.
After discussion and comprehensive analysis of difficult cases in the hospital, Vice President Yan Bingcang proposed that Huntington's disease is more likely to be considered, and it is recommended to improve genetic testing.
△ Consultation and discussion
After full communication and the consent of the family, Liu Gang underwent genetic testing, and three weeks later, the genetic testing report showed that the CAG copy number of the HTT gene associated with Huntington's disease was n=19/51, and the conclusion was positive, and the CAG copy number was n>36, which met the diagnostic criteria for Huntington's disease, and the genetic test results met the diagnosis.
Finally diagnosed, the medical staff immediately began to treat Wang Gang. At the same time of drug treatment such as deuterotetrabenazine, according to the syndrome differentiation of traditional Chinese medicine, according to the principle of nourishing yin and clearing heat, nourishing the liver and kidneys, traditional Chinese medicine treatment such as acupuncture, acupoint application, septum moxibustion, and traditional Chinese medicine directional dialysis was carried out to help Wang Gangwen to improve meridian circulation, improve limb function and control abnormal movements.
After 10 days of treatment, Wang Gang's condition has changed gratifyingly, there is no obvious abnormal movement during rest, there is no obvious abnormal movement of the torso when walking, the range of involuntary movement of limbs has become smaller, and the gait has become more stable.
△ Wang Gang's involuntary movement amplitude of limbs became smaller, and his gait became more stable
The age of 30-50 is the peak period of incidence, and the disability and mortality rate is high
"There is currently no cure for Huntington's disease, and long-term ongoing treatment is aimed at helping patients manage their condition and improve their quality of life as much as possible." Fu Chengbao said that the disease is an autosomal dominant neurodegenerative disease, caused by complex causes such as gene mutations, and is named because the patient keeps shaking his limbs and resembles a pole dance movement. The peak period of the disease is 30-50 years old, the disability and mortality rate is high, and the patients will gradually lose the ability to take care of themselves, and the average life expectancy is about 15-20 years. Among them, the prevalence of offspring of affected individuals was 50%, and there was a tendency to develop the disease early in successive offspring, which became premature heredity, and the premature heritage of paternal inheritance was more obvious.
According to Fu Chengbao, the clinical symptoms of Huntington's disease are complex and changeable, but they usually manifest as a "triad" of movement disorder, mental and behavioral disorder and cognitive dysfunction characterized by involuntary chorea-like movements. As the disease progresses, the extent and degree of chorea often worsens, resulting in dysarthria, dysphagia, and involuntary vocalizations, and advanced chorea often disappears, replaced by stiffness and inactivity. At the same time, patients often have depressed mood, depression, irritability, apathy, anxiety, paranoia, delusions, hallucinations, obsessive-compulsive behaviors, and psychotic manifestations, which are mostly progressively worsening. Cognitive impairment is mainly manifested by executive dysfunction, inability to make decisions, perform multiple tasks, and decreased ability to switch cognitive goals. Memory loss or loss may occur late in the course of the disease, and dementia may eventually develop.
For such a rare hereditary disease, Fu Chengbao reminded that advanced age should be avoided as much as possible, and prenatal diagnosis should be done for elderly children (women over 35 years old, men over 45 years old). People with a history of genetic disease, who have given birth to a malformed child, or who have had multiple miscarriages should receive genetic counseling and, if necessary, prenatal diagnosis to prevent the birth of a fetus with serious diseases and defects. Secondly, if there is a corresponding abnormality, it is necessary to seek medical examination as soon as possible, early detection and early treatment, so as to improve the clinical symptoms, so as to control the development of the disease and improve the quality of life.
Chinese business all-media reporter Chen Mengyang correspondent Gao Yayu