Understanding Genetic Counseling and Testing for Rare Diseases
Genetic counseling and treatment? Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) concerning Wei-Lun. In your explanation, you mentioned special biochemical tests, genetic analysis, and bone age assessment. Could you please clarif...
Dr. Lin Xuanpei Reply:
1. Special biochemical tests include examinations related to skeletal development: alkaline phosphatase (Alk.-P), calcium, phosphorus, urinary calcium, and calcium/creatinine ratio. Sometimes, calcitonin, osteocalcin, and other research-related bone metabolism products may also b...[Read More] Understanding Genetic Counseling and Testing for Rare Diseases
Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Medical Genetics Endocrinology and Metabolism Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium suppleme...
Dr. Hou Jiawei Reply:
Osteogenesis Imperfecta (OI), commonly referred to as "glass bone disease," is primarily caused by a hereditary defect in type I collagen, leading to decreased bone strength and increased susceptibility to fractures. Initial evaluations upon first consultation typically...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Understanding Post-Concussion Symptoms in Children: Causes and Treatments
Concussion Hello Doctor: My 10-year-old child has recently been complaining of frequent pain in the back of the head. He was previously injured in second grade when he fell and hit the back of his head, but medical examinations at that time showed no significant issues. However, ...
Dr. Huang Litong Reply:
1. It's not a concussion issue. 2. It may be related to the pressure of academic performance in children.[Read More] Understanding Post-Concussion Symptoms in Children: Causes and Treatments
Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Facial nerve palsy, extrapyramidal syndrome, chorea, Parkinson's disease, epilepsy? Doctor, I have been suffering from this illness for a long time—vertebral body syndrome, chorea, Parkinson's disease, epilepsy. I didn't mean to come into contact with amphetamines,...
Dr. Lai Xiangrong Reply:
What is your main issue? The likelihood of young-onset Parkinson's disease is very low, and chorea and epilepsy are completely different conditions. Sleep is another issue, and dependence on amphetamines is also a concern. You should first go to the hospital to address your ...[Read More] Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
Please provide the content you would like me to translate? My mother has been troubled by frequent hand cramps for nearly ten years. She has been regularly seeing a neurologist in Taichung, but there seems to be no improvement. The neurologist in Taichung diagnosed her with "...
Dr. Lai Xiangrong Reply:
Based on the description in the letter, the frequent muscle cramps in the hands, along with the symptoms of uncontrollable cramps leading to a few minutes of unconsciousness, could potentially indicate epilepsy. Epilepsy is characterized by abnormal electrical discharges in the b...[Read More] Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
Tracking Genetic Mutations in Muscle Atrophy: Causes and Prevention
Tracking the Causes of Muscle Atrophy Due to Genetic Mutations and Strategies for Preventing Recurrence? My son, who is in the third year of junior high school, has been experiencing symptoms progressively. Initially, the most noticeable issue was frequent falls. As parents, we o...
Dr. Chen Shunsheng Reply:
In the country, genetic diagnosis for progressive muscular atrophy is relatively rare. Currently, related genetic diagnosis and treatment are conducted through international collaboration, with most specimens being sent to Japan or the United States for testing.[Read More] Tracking Genetic Mutations in Muscle Atrophy: Causes and Prevention
Understanding Joint Pain: Seeking Answers for Rare Conditions
Is there pain in all the joints? I have been experiencing this issue for seven or eight years. Whenever I have an episode, one of my joints becomes swollen and painful. I have visited many hospitals, but no one has been able to determine the cause. I only went to a hospital in Ch...
Dr. Lin Sixie Reply:
If multiple joints are indeed red, swollen, hot, and painful, and the symptoms persist for more than six weeks, you may meet the criteria for "chronic polyarthritis." This could be an autoimmune disease or another systemic condition, and it is essential to consult a rhe...[Read More] Understanding Joint Pain: Seeking Answers for Rare Conditions
Navigating Rare Diseases: Which Specialist Should You Consult?
What should I do??? Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing f...
Dr. Lin Xuanpei Reply:
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?
Understanding Involuntary Head Tremors: Causes and Diagnosis
What could be the reasons for persistent head shaking? Hello, doctor! I would like to ask about my mother (in her 60s). She experiences involuntary head shaking when she is not paying attention (for example, while watching TV), but when you talk to her and she is focused, the sha...
Dr. Chen Shunsheng Reply:
Involuntary head movements can have several possible causes: 1. Essential tremor 2. Tardive dyskinesia 3. Dystonia 4. Tics 5. Other conditions; it is advisable to consult a neurologist for a definitive diagnosis before determining the next steps.[Read More] Understanding Involuntary Head Tremors: Causes and Diagnosis
Dealing with Numbness: Finding the Right Doctor for Rare Conditions
Excessive fatigue from work has caused numbness in my hands, making it difficult to sleep and perform tasks? Due to long-term heavy lifting and lack of sleep, my hands have started to feel numb, which prevents me from sleeping. The numbness is so severe that I can't do anyth...
Dr. Chen Shunsheng Reply:
Peripheral nerve-related conditions include the following possibilities, arranged by frequency of occurrence: 1. Carpal Tunnel Syndrome: This condition occurs when the median nerve is compressed as it passes through the carpal tunnel at the wrist. It is commonly seen in occupati...[Read More] Dealing with Numbness: Finding the Right Doctor for Rare Conditions
PTC124: A Revolutionary Drug for Rare Genetic Disorders on the Horizon
On the 23rd, the London Times reported on a pill coded PTC124? Is there hope for patients with Duchenne Muscular Dystrophy regarding the report below? And when can we expect to obtain the new drug domestically if it is approved? Thank you! According to a report by The Times of ...
Dr. Chen Shunsheng Reply:
PTC is currently limited to laboratory and mouse studies for the treatment of Duchenne muscular dystrophy. Its use in humans is only in Phase II clinical trials. After the completion of this trial, Phase III and IV clinical trials will be necessary to determine its efficacy and s...[Read More] PTC124: A Revolutionary Drug for Rare Genetic Disorders on the Horizon
Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Genetic counseling for carnitine deficiency? Hello, during my first pregnancy, I terminated the pregnancy after the prenatal checkup revealed that the baby had a cleft lip. In my second pregnancy, the baby's chromosomal analysis showed 46,XX,t(4;14)(q33;32.3) with the mother...
Dr. Lin Xuanpei Reply:
Carnitine deficiency can be broadly categorized into two main types: secondary and primary. Secondary carnitine deficiency primarily results from inadequate dietary intake or excessive consumption due to certain specific diseases, leading to a decrease in serum carnitine levels. ...[Read More] Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Can My Boyfriend's Myotonia Congenita Be Treated? Understanding the Condition
Is there a treatment for myotonic dystrophy? Hello! I would like to ask about my boyfriend, who is 27 years old and has had congenital myotonia since childhood. It seems that his grandmother also had it, but very mildly, and she is now in her 70s and still able to walk. My boyfri...
Dr. Jian Yingxiu Reply:
Please visit a genetic counseling center with your boyfriend to understand the patterns of hereditary diseases and your future family planning. If you can bring complete results of any disease screenings, it will further assist the physician in understanding your boyfriend's...[Read More] Can My Boyfriend's Myotonia Congenita Be Treated? Understanding the Condition
Understanding Long-Term Hand Numbness: Causes and Solutions
Chronic hand numbness Hello Doctor: I have been experiencing sudden numbness in my hands for a long time, especially when riding a motorcycle, where the numbness occurs frequently. Additionally, I often feel soreness in the middle of my back. My profession is in the food and beve...
Dr. Chen Shunsheng Reply:
Peripheral nerve-related conditions include the following possibilities, arranged by frequency of occurrence: 1. Carpal Tunnel Syndrome: This condition occurs when the median nerve is compressed as it passes through the carpal tunnel at the wrist. It is commonly seen in individu...[Read More] Understanding Long-Term Hand Numbness: Causes and Solutions
Supporting Children with Craniosynostosis: Resources and Parental Guidance
Craniosynostosis of the clavicle? Hello, doctor. I have a three-year-old daughter who has this rare disease. Since there are not many patients in the country, I would like to understand what measures other parents have taken in raising their children. I hope to receive assistance...
Dr. Li Zongliao Reply:
Dear Sir/Madam, The issue regarding incomplete development of the skull and clavicle is as follows: Craniosynostosis is a congenital genetic disorder that is typically inherited in an autosomal recessive manner, generally comprising two parts. First, there is underdevelopment of...[Read More] Supporting Children with Craniosynostosis: Resources and Parental Guidance
Understanding Rare Bone Disorders in Children: When to Consult an Orthopedic Specialist
Orthopedic Consultation My child is in the second grade. When he was over one year old, we discovered multiple bone enlargements on the right side of his body, specifically in the bones between the joints and in the pelvis. We have been monitoring this with annual X-rays, but we ...
Dr. Li Zongliao Reply:
According to the letter, this patient has a benign unilateral multiple osteochondroma, with clinical issues related to length discrepancy and deformity. These problems generally become more pronounced with age. Typically, management is based on the clinical manifestations. Your c...[Read More] Understanding Rare Bone Disorders in Children: When to Consult an Orthopedic Specialist
Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
Regarding Cat Cry Syndrome? Because I have observed several characteristics of Cri du Chat syndrome in my baby, such as a weak cry, low birth weight, poor sucking reflex, developmental delays, a flat nasal bridge, a short neck, and a simian line. However, you mentioned that this ...
Dr. Zhu Shaoying Reply:
Concerned Mother: It appears that your child does indeed have some issues, as you mentioned, including a weak cry, low birth weight, poor sucking ability, developmental delays, a flat nasal bridge, a short neck, and simian lines. We are unsure why you underwent early chorionic vi...[Read More] Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
Understanding Congenital Camptodactyly: Treatment and Care Options
Congenital camptodactyly My son was born with a bent left thumb, and after consulting an orthopedic doctor, it was diagnosed as congenital camptodactyly. The doctor suggested that regular massage could help improve the condition. He is currently four months old, and I have notice...
Dr. Li Zongliao Reply:
In response to the inquiry from Mao CC, the issue of a newborn presenting with a bent thumb may have several potential causes. These include deformities due to fetal positioning that result in thumb flexion or inward bending, while other causes are less common. Possible reasons c...[Read More] Understanding Congenital Camptodactyly: Treatment and Care Options
Understanding Galloway-Mowat Syndrome: Insights and Information
Galloway-Mowat syndrome Hello Dr. Lin: I would like to gain a better understanding of this condition (Galloway-Mowat syndrome) because I have a friend who has a baby with this disease. I have searched extensively online and in books for information related to this condition, but ...
Dr. Lin Xuanpei Reply:
Galloway-Mowat syndrome is a severe congenital kidney disease associated with microcephaly and brain development abnormalities, often characterized by unique facial features. Many affected children have long, slender fingers and toes, and it is classified as an autosomal recessiv...[Read More] Understanding Galloway-Mowat Syndrome: Insights and Information
Confusion Over Rare Skin Condition: Seeking Answers from Multiple Specialists
The hematologist suspects that I have vasculitis, while the dermatologist suspects erythema nodosum? I have noticed swollen, red, and warm spots on my calves. They are inflamed! The smaller ones are about the size of a ten-dollar coin, while two areas are larger, roughly the size...
Dr. Lin Sixie Reply:
The symptoms you described are indeed more consistent with erythema nodosum. Its clinical presentation is often acute, painful, with poorly defined borders, and consists of non-ulcerative red nodules, typically found on the extensor surfaces of the lower limbs, and is more common...[Read More] Confusion Over Rare Skin Condition: Seeking Answers from Multiple Specialists