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
Understanding Piriformis Syndrome: From Discomfort to Pain Management
The piriformis muscle gradually transitions from soreness to pain? Hello doctor, I have a long-standing condition that has been difficult to eradicate. It involves the piriformis muscle on the left side of my buttock, extending down my entire leg. Initially, it was just soreness,...
Dr. Chen Shunsheng Reply:
Pain in the left gluteal region radiating down the entire leg, especially with certain positions, may be due to: 1. Lumbar nerve root or plexus pathology 2. Myofascial pain syndrome or muscle strain 3. Lumbar sacralization. Therefore, it is recommended to: 1. Consult with a neuro...[Read More] Understanding Piriformis Syndrome: From Discomfort to Pain Management
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
Understanding Scleroderma: Risks, Treatments, and Support for Patients
Scleroderma The doctor would like to ask about my husband, who was diagnosed with scleroderma at Taichung Veterans General Hospital. His fingers have been persistently blackened and feel like frostbite, and he has lost strength in them. As he is a musician who needs to play the p...
Dr. Lin Sixie Reply:
Scleroderma is a chronic connective tissue disease characterized by skin hardening, with the exact cause still unclear. The disease is marked by excessive proliferation of connective tissue, leading to fibrosis in various parts of the body. This change most commonly occurs in the...[Read More] Understanding Scleroderma: Risks, Treatments, and Support for Patients
Understanding Sarcomatoid Carcinoma: Diagnosis, Treatment, and Prognosis
Sarcoma-like disease How is the diagnosis and treatment of sarcomatoid carcinoma established? Is it curable?
Dr. Lin Sixie Reply:
Sarcoidosis is a chronic, idiopathic disease characterized by noncaseating granulomas that can affect multiple organ systems. It primarily occurs in young adults, with a peak incidence between the ages of 20 and 40, and has a similar prevalence in both males and females. The dise...[Read More] Understanding Sarcomatoid Carcinoma: Diagnosis, Treatment, and Prognosis
Understanding Myonuclear Displacement in Rare Pediatric Muscle Disorders
Intramuscular migration In children, HE staining shows muscle fibers of varying sizes with nuclei displaced within the fibers. Some muscle fibers exhibit a moth-eaten appearance and compensatory hypertrophy. Is it possible for this condition to be treated effectively?
Dr. Lin Guanglin Reply:
The findings from HE staining may indicate the presence of immature muscle cells, which should be discussed with the interpreting physician. Muscle biopsies cannot diagnose all diseases, and it may not be possible to determine the potential for treatment based solely on this info...[Read More] Understanding Myonuclear Displacement in Rare Pediatric Muscle Disorders
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
Understanding Congenital Myotonia: Will Symptoms Worsen Over Time?
Myotonic Dystrophy Hello! I am the one who just asked about myotonic dystrophy. I would like to ask again about congenital myotonic dystrophy. I am currently 27 years old, and my symptoms are mild, similar to those of a normal person. Will my condition worsen in the future? Thank...
Dr. Jian Yingxiu Reply:
The differences between typical and congenital manifestations of myotonic dystrophy are significant. It is recommended that you confirm the diagnosis first before inquiring about related genetic and prognostic issues. Thank you.[Read More] Understanding Congenital Myotonia: Will Symptoms Worsen Over Time?
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
Understanding Rare Symptoms: Dizziness, Ear Pressure, and Anxiety
Dizziness, a heavy feeling in the ears, inability to control one's will, palpitations, fear, and stomach discomfort? The symptoms you are describing, including dizziness, a feeling of heaviness in the ears, loss of control over one's will, palpitations, fear, abdominal ...
Dr. Lai Xiangrong Reply:
Your symptoms are difficult to categorize as a specific disease; a psychiatrist may be the most helpful for you based on their expertise.[Read More] Understanding Rare Symptoms: Dizziness, Ear Pressure, and Anxiety
Understanding Rare Allergies in Children: Seeking the Right Treatment
Athlete's foot?? Allergy??? I would like to inquire about pediatric allergies. I have a son who was born in 2001 at 23 weeks gestation, weighing over 800 grams. Recently, I noticed that the skin on his fingers and the soles of his feet has been peeling. We first consulted a ...
Dr. Lin Ruli Reply:
It doesn't seem like athlete's foot; please consult Dr. Shih Yi-Hsin at our pediatric dermatology department for diagnosis and treatment.[Read More] Understanding Rare Allergies in Children: Seeking the Right Treatment
Understanding Tongue Numbness: Causes and When to Seek Help
Numbness of the tongue? Hello Doctor: I am a senior in high school this year! A few days before the university entrance exam, I experienced numbness in my tongue and the right side of my scalp. The day before the exam, the right side of my cheek also started to feel numb. The num...
Dr. Chen Shunsheng Reply:
Persistent tongue numbness may be due to: 1. Glossitis: such as vitamin B12 deficiency, medications, or specific food reactions. 2. Polyneuropathy: such as B12 deficiency or certain toxic or metabolic neuropathies. 3. Cranial nerve disorders: including certain trigeminal nerve di...[Read More] Understanding Tongue Numbness: Causes and When to Seek Help
Understanding Rare Conditions: When to See a Specialist for Tinnitus-Like Symptoms
Similar to brain buzzing (like the sound of cicadas), but not tinnitus? Based on the ENT examination indicating aging, along with high blood pressure, elevated blood sugar, and obesity, it would be advisable to consult with a primary care physician or an internist. They can provi...
Dr. Jian Yingxiu Reply:
Please visit an internal medicine or family medicine clinic.[Read More] Understanding Rare Conditions: When to See a Specialist for Tinnitus-Like Symptoms
Understanding Rare Peripheral Neuropathy: Symptoms and Treatment Options
Neuropathy I have primary small fiber neuropathy, and I experience a sensation of electric shock and burning all over my body when exposed to heat, along with an absence of sweating. Various medical centers in the northern region have noted moderate inflammation in the nerve biop...
Dr. Huang Litong Reply:
The current diagnosis and pharmacological treatment are appropriate, with regular follow-ups, and there are no specific treatment methods indicated.[Read More] Understanding Rare Peripheral Neuropathy: Symptoms and Treatment Options
Understanding Hypocalcemia: Symptoms, Risks, and Management Tips
Hypocalcemia What is hypocalcemia? What are the precautions and situations to be aware of regarding this condition?
Dr. Chen Shunsheng Reply:
Hypocalcemia is critical for nerve and muscle tissues. When the level of free calcium in the blood decreases, it can easily lead to muscle spasms, arrhythmias, seizures, and even epileptic attacks. If not properly managed, severe cases can result in death due to arrhythmias. The ...[Read More] Understanding Hypocalcemia: Symptoms, Risks, and Management Tips
Concerns About My Nephew's Health: Signs of Rare Disorders
My nephew was suspected of having Down syndrome? Dear Dr. Lin, Hello, my nephew is nine months old. He was previously seen at your clinic (Taipei Mackay Memorial Hospital) and there were concerns about the possibility of Down syndrome. However, I am unsure of the results. Recent...
Dr. Lin Xuanpei Reply:
It is uncertain whether the mentioned "Tang baby" refers to Down syndrome. If so, a chromosomal test can confirm the diagnosis. For the described infant's condition, if there are no urgent respiratory or sleep-related issues, it is recommended to utilize preventive...[Read More] Concerns About My Nephew's Health: Signs of Rare Disorders
Understanding Carnitine Deficiency in Preterm Infants: Symptoms and Management
Carnitine deficiency Hello, doctor. My daughter was born prematurely at 28 weeks and is currently 2 months old. She has a deficiency in carnitine and is still in the incubator, struggling with feeding. She experiences frequent abdominal distension and is currently fasting, only t...
Dr. Jian Yingxiu Reply:
Carnitine deficiency is typically assessed through blood tests measuring acylcarnitine levels, as well as the concentrations of free and total carnitine. If there is suspicion of deficiency, further evaluation may involve skin fibroblast testing for specific enzyme activity or ge...[Read More] Understanding Carnitine Deficiency in Preterm Infants: Symptoms and Management
Understanding Minimal Change Myopathy: Insights on a Rare Condition
Congenital myopathy with minimal change? Hello Dr. Chen: Rui Rui has been diagnosed with minimal change myopathy.
Dr. Chen Shunsheng Reply:
Minimal change myopathy is not a specific disease name; rather, it is a diagnosis made by clinicians based on experience for congenital myopathy. However, during muscle biopsy, it cannot be classified under specific ultrastructural abnormalities associated with distinct congenita...[Read More] Understanding Minimal Change Myopathy: Insights on a Rare Condition
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