Understanding Spinal AV Malformations: Symptoms, Causes, and Management
Spinal arteriovenous malformation (AVM) Hello Doctor, I have been experiencing difficulty walking normally, causing my body to lean to the left. After a visit to the family medicine department for blood tests, I was advised to drink more water. I then consulted a neurologist who ...
Dr. Liu Qingshan Reply:
Based on your symptoms, it is understandable that you are experiencing difficulties in your daily life. However, according to your description, a diagnosis from a neurologist seems appropriate. Cervical or lumbar spinal arteriovenous malformations can cause compression of the neu...[Read More] Understanding Spinal AV Malformations: Symptoms, Causes, and Management
Sudden Weakness: Understanding Rare Diseases and Nutritional Impact
Sudden weakness? Doctor, I have had diarrhea for the past two days and after taking medication, it has improved. However, I feel extremely weak all over, especially in my limbs. I used to be able to sit and take off my pants, but now I can't even support my body with one han...
Dr. Jian Yingxiu Reply:
Spinal muscular atrophy and many neuromuscular diseases have indeed been observed to experience rapid degeneration following acute illnesses (such as infections). Some individuals may regain partial function after recovering from the acute condition. Please continue to monitor yo...[Read More] Sudden Weakness: Understanding Rare Diseases and Nutritional Impact
Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
Rare diseases Hello Doctor: I would like to ask about my girlfriend, who has hearing impairment combined with Klippel-Feil syndrome and dental issues: her upper jaw is recessed, and her lower jaw is protruding. Regarding her ear condition, she currently wears hearing aids. What s...
Dr. Jian Yingxiu Reply:
Hello: Currently, the treatment is symptomatic. It is necessary for her otolaryngologist to evaluate the most appropriate management in conjunction with a dentist or a plastic surgeon. It is recommended that you go and explain your needs to the physician. Thank you.[Read More] Understanding Rare Diseases: Treatment Options for Hearing and Dental Issues
Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Abnormal coproporphyrin test results? Hello, doctor. I would like to ask about the clinical significance of abnormal coproporphyrin tests. Thank you for your response. The doctor mentioned a suspicion of a rare disease known as porphyria, but only abnormal urinary coproporphyrin ...
Dr. Jian Yingxiu Reply:
Hello: Currently, for the diagnosis of the rare disease porphyria, genetic testing can be used to confirm whether the criteria for reporting are met. However, not all patients will receive definitive answers from genetic testing. Please discuss with your physician the necessity o...[Read More] Clinical Significance of Abnormal Coproporphyrin Tests in Rare Diseases
Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
NTU Next-Generation Genetic Testing Kit Hello Dr. Jian, regarding the previously mentioned issue of "whole exome sequencing and the NTU next-generation neuromuscular testing panel," if whole exome sequencing encompasses the genes tested in the neuromuscular panel, why d...
Dr. Jian Yingxiu Reply:
Hello: Each test has its own advantages and disadvantages, as well as its own validation results. Therefore, it is still necessary for clinical physicians to assess the individual case and determine the appropriate tests that meet the needs. Thank you.[Read More] Understanding the Need for Specialized Genetic Testing Kits in Rare Diseases
Understanding ANA Test Results: Implications for Rare Diseases in Children
Immunoglobulin antibody index My daughter (8 years old) recently experienced abnormal hair loss and underwent blood tests at the hospital. The results showed an ANA titer of 1:640, with further testing revealing 1:640 + Homogeneous (AC-1) and 1:320 + Centromere (AC-3). I would li...
Dr. Lin Sixie Reply:
Hello Peggy: 1. Do these two indices indicate that scleroderma will definitely develop in the future? No. 2. What other tests are needed? Symptoms that are more commonly seen in pediatric scleroderma include localized thickened, shiny rashes or associated joint stiffness. If ther...[Read More] Understanding ANA Test Results: Implications for Rare Diseases in Children
Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Microdeletion of the long arm q11.2 of chromosome 15 detected in amniotic fluid? A microdeletion of approximately 520 kb is present in the long arm of chromosome 15 at the q11.2 region, specifically located within the OMIM (615656) region from 22,582,282 to 23,102,262. This delet...
Dr. Jian Yingxiu Reply:
Generally speaking, if the changes occur within the individual, they are more likely to cause functional abnormalities. In cases of hereditary conditions, the individual will often resemble the parents' situation, but this can vary depending on the expressivity of the diseas...[Read More] Understanding Microdeletion of Chromosome 15q11.2: Implications for Rare Diseases
Understanding ALS: Concerns and Symptoms in Young Adults
Suspecting that you have amyotrophic lateral sclerosis (ALS)? Hello, Dr. Lai. I am 23 years old and about to become a fresh graduate. Around mid-April, I experienced persistent twitching under my right eye and in my left calf. Since this had never happened before, I became quite ...
Dr. Lai Xiangrong Reply:
Hello, many people experience the situation you described. The subtle muscle twitching is medically referred to as "fasciculation." This twitching is quite common in healthy individuals, with eyelid twitching being the most well-known occurrence. It can also happen in t...[Read More] Understanding ALS: Concerns and Symptoms in Young Adults
Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
At 28 weeks, PRUV was only discovered, and genetic testing was not performed earlier. How can we further confirm the fetal condition? The patient is a 33-year-old woman who had a delayed labor resulting in a cesarean section for her first pregnancy. During her second pregnancy at...
Dr. Wu Wanru Reply:
Currently, what you are seeing are normal variations commonly found on ultrasound, with little correlation to rare diseases. However, there is always a possibility of unexpected findings (although the probability is extremely low). If you are very concerned about this possibility...[Read More] Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
Understanding Back Pressure in Seniors: Causes, Risks, and Prevention
What diseases can result from prolonged pressure on the back of the elderly, and how can they be prevented? Cause: Is it correct, doctor, that as elderly individuals age, poor blood circulation can lead to vascular fragility and loss of elasticity, resulting in various health iss...
Dr. Liu Qingshan Reply:
This issue is not related to rare diseases, and it is difficult to understand the main implications of the problem. It is recommended to consult the cardiovascular surgery and rehabilitation outpatient clinics.[Read More] Understanding Back Pressure in Seniors: Causes, Risks, and Prevention
Rare Ear Diseases: Understanding Uncommon Conditions and Symptoms
Rare diseases of the ear? Could you please tell me about rare diseases related to the ears or rare neurological disorders associated with the ears? For the past few years, I have been experiencing eye movements accompanied by sounds in my ears. Last year, I developed a blockage i...
Dr. Lai Xiangrong Reply:
Your issue is indeed rare, and there are no symptoms in rare neurological diseases that match your description. It may be advisable to consult with an ophthalmologist or an otolaryngologist to see if they can investigate the correlation of your symptoms.[Read More] Rare Ear Diseases: Understanding Uncommon Conditions and Symptoms
Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Chromosomal deletion The deletion at 138275 is located at the long arm of chromosome 15, specifically at q11.2, within the region from 22,770,421 to 23,282,798, which corresponds to OMIM (615656). What potential impacts could this have? The blood test has confirmed it is heredita...
Dr. Chen Ming Reply:
Please scan your report and send it to [email protected]. Additionally, call 04-7238595 ext. 7244 to request assistance from a genetic counselor to add me to the Chang Gung Memorial Hospital outpatient clinic. God bless you. [The case results do not specify the genome version...[Read More] Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Understanding the Impact of Chromosomal Translocation on Rare Diseases
Chromosomal translocation can have several potential effects, including: 1. **Genetic Disorders**: Translocations can disrupt normal gene function, leading to genetic disorders. For example, the Philadelphia chromosome, resulting from a translocation between chromosomes 9 and Th...
Dr. Chen Ming Reply:
The incidence of balance displacement syndrome is actually one in five hundred, which is not uncommon. You have done what you needed to do; now we just wait for the results. May God bless you.[Read More] Understanding the Impact of Chromosomal Translocation on Rare Diseases
Exploring Genetic Testing for Rare Diseases: Beyond Wilson's Disease
Wilson's disease? Genetic testing? Hello Doctor: Previously, I experienced involuntary hand tremors that caused significant distress, so I consulted a neurologist. Blood test results showed low levels of copper and ceruloplasmin, raising suspicion for Wilson's disease. ...
Dr. Lai Xiangrong Reply:
Wilson's disease genetic testing is currently available at the Changhua Christian Hospital Genetic Counseling Center, the Genetic Medicine Department of the National Taiwan University Hospital, and the Molecular Biology Section of the Laboratory Medicine Department at China ...[Read More] Exploring Genetic Testing for Rare Diseases: Beyond Wilson's Disease
Seeking Medical Guidance for Short Stature and Rare Disorders
Adults with a stature resembling that of children should consult an endocrinologist? I am currently 44 years old and 131 cm tall. I would like to apply for a disability certificate. When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr. Dong, who quest...
Dr. Jian Yingxiu Reply:
Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes. Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the ...[Read More] Seeking Medical Guidance for Short Stature and Rare Disorders
Navigating Rare Disease Care: Challenges with Acute Polyneuropathy Treatment
Thank you for your response? Hello, I am a patient with acute intermittent porphyria. You responded by saying (discuss with the attending physician, he will pay attention to the usage). I was diagnosed with this condition at Linkou Chang Gung Memorial Hospital, but when I went to...
Dr. Chen Shunsheng Reply:
Rare diseases require a highly specialized team. For your issue, I recommend Dr. Chih-Cheng Huang from the Department of Neurology, specializing in neuromuscular disorders. He has trained at the Mayo Clinic in the United States, is very nice, and most importantly, I have informed...[Read More] Navigating Rare Disease Care: Challenges with Acute Polyneuropathy Treatment
Understanding Short Anagen Syndrome: A Mother's Quest for Answers
My daughter? Hello Doctor: I don't understand, so I would like to ask you. My daughter has been diagnosed with Short Anagen Syndrome after some examinations due to her hair appearance. Previously, there were six other cases with the same symptoms, but they were all Western i...
Dr. Jian Yingxiu Reply:
Hello: 1. This diagnosis currently relies on clinical assessment; a physician will attribute the condition to this disease only if they believe there are no other explanations for the phenomenon. Conversely, this disease typically only affects hair growth and can cause psychologi...[Read More] Understanding Short Anagen Syndrome: A Mother's Quest for Answers
Are Rare Diseases Always Genetic? Understanding Risks and Testing Options
Are rare diseases genetic disorders? Dear Doctor, are all rare diseases caused by genetic factors? I am currently planning to have children and would like to inquire about what tests can be done. I have read many websites and feel quite anxious.
Dr. Jian Yingxiu Reply:
Rare diseases are not necessarily caused by genetic factors. It is recommended that you and your partner visit a nearby medical center for genetic counseling, where a physician can assess your family health history and provide a list of tests that you can undergo. Thank you.[Read More] Are Rare Diseases Always Genetic? Understanding Risks and Testing Options
Understanding Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Taiwan Rare Disease Organization Database Hello Doctor, have you heard about the Rare Disease Organization Database Project in Taiwan? Regarding the storage of specimens and data in the Taiwan Rare Disease Organization Database, is the privacy, security, and legal framework compr...
Dr. Lin Ruli Reply:
Legal survey on issues faced by patients with non-rare diseases.[Read More] Understanding Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Understanding Peters Plus Syndrome: Impacts, Complications, and Genetics
Peters Plus Syndrome is a rare genetic disorder characterized by a combination of ocular abnormalities, including corneal opacities and cataracts, Hello Dr. Lin: The child was born in March with a cleft lip and alveolar cleft. Due to the appearance of shorter limbs, he was referr...
Dr. Lin Xuanpei Reply:
Parents are advised to contact Dr. Chao Mei-Chin at Kaohsiung Medical University for further inquiries and discussions regarding genetic counseling during her special clinic hours. Dr. Chao is likely to be willing to meet with you. If you wish to seek a second opinion, you may br...[Read More] Understanding Peters Plus Syndrome: Impacts, Complications, and Genetics