Other, Rare Disease FAQ - Page 12

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Understanding Mixed Connective Tissue Disease: What You Need to Know

I'm really experiencing......? Hello Dr. Yang, I accidentally discovered a yellow card in my girlfriend's purse that says "Major Illness Card" with the diagnosis of "Mixed Connective Tissue Disease." At first, I was quite curious about what a Major I...


Dr. Yang Kunde Reply:
Dear Sir/Madam, 1. "Mixed Connective Tissue Disease" is an autoimmune disorder characterized by the immune system attacking its own blood vessels and connective tissues through its immune cells and autoantibodies. It is not an infectious disease, nor is it a condition ...

[Read More] Understanding Mixed Connective Tissue Disease: What You Need to Know


Seeking Help for My Cousin's Tourette Syndrome: Treatment Options Explored

Can the doctors please help me? Dear Doctor, My 14-year-old cousin has been diagnosed with Tourette syndrome. After undergoing medication treatment, his condition has not improved and seems to be worsening. I came across information online about the so-called "Yale Univers...


Dr. Jian Yingxiu Reply:
The treatment for Tourette syndrome primarily relies on medication. If the medication is not effective, other new drugs may be considered, as well as surgical options or electrical stimulation methods. Regarding the injection of immunoglobulin, recent placebo-controlled double-bl...

[Read More] Seeking Help for My Cousin's Tourette Syndrome: Treatment Options Explored


Understanding Tourette Syndrome: Seeking the Right Specialist for Treatment

How to treat Tourette syndrome? Hello Dr. Lin, My brother is a patient with Tourette syndrome. He is currently a 24-year-old male facing military service issues. Our family has only gradually realized over the past 20 years that this is a medical condition. My father is concerne...


Dr. Lin Guanglin Reply:
You can visit the adult neurology department at major hospitals or consult Dr. Wang Hui-Hsiung at Chang Gung Children's Hospital.

[Read More] Understanding Tourette Syndrome: Seeking the Right Specialist for Treatment


Understanding Brain Aneurysm Surgery: Recovery Tips and Care

Cerebral Aneurysm Surgery Hello, doctor. I would like to ask you some questions regarding the surgery for a brain aneurysm. My mother experienced sudden, severe pain in her head, feeling as if it was about to explode, while riding her motorcycle in early May this year. She had no...


Dr. Qian Xinnan Reply:
The Tri-Service General Hospital responded on September 20, 2004, at 10:04 AM. I hope you have received this. It is a very good question to understand the treatment situation for hemangiomas. First, it is essential to discuss with the physician treating your mother to gain a bett...

[Read More] Understanding Brain Aneurysm Surgery: Recovery Tips and Care


Understanding Tourette Syndrome: Symptoms, Longevity, and Treatment Options

About Tourette Syndrome? Tourette syndrome symptoms can persist throughout a person's life, but they generally become milder after puberty. Typically, 30-40% of affected children experience a natural resolution of symptoms after adolescence, while 30% see a significant reduc...


Dr. Hou Zhigong Reply:
1. Not all body movements are necessarily Tourette syndrome. First, she must see a qualified neurologist for an evaluation to determine whether she has this condition or if there are other possibilities. 2. Tourette syndrome is not curable; it only presents with varying degrees o...

[Read More] Understanding Tourette Syndrome: Symptoms, Longevity, and Treatment Options


Understanding Neonatal Hypoxia: Essential Tests and Considerations

Pediatric Hypoxia Hello Dr. Lin, I apologize for reaching out, but your name is only found among the specialists in rare diseases. My sister gave birth to a baby boy today, and the attending physician mentioned that the baby exhibited signs of respiratory distress after birth, s...


Dr. Lin Guanglin Reply:
Based on your description, it is not possible to determine if there is hypoxia. Currently, regular developmental follow-ups with a pediatrician are sufficient. If there are concerns, a cranial ultrasound can be performed.

[Read More] Understanding Neonatal Hypoxia: Essential Tests and Considerations


Understanding Emery-Dreifuss Muscular Dystrophy: Symptoms, Genetics, and Treatment Options

Emery-Dreifuss Muscular Dystrophy (EDMD) is a genetic disorder characterized by muscle weakness and wasting, joint Hello Doctor: Since childhood, I have been diagnosed with muscular dystrophy by doctors at National Taiwan University and Veterans General Hospital, although I am un...


Dr. Lin Guanglin Reply:
Emery-Dreifuss Muscular Dystrophy is inherited in an X-linked manner, and there is currently no specific medication for treatment. For detailed medical evaluation, please consult Dr. Luo Rongsheng at the Neurology Department of Linkou Chang Gung Memorial Hospital.

[Read More] Understanding Emery-Dreifuss Muscular Dystrophy: Symptoms, Genetics, and Treatment Options


Understanding Involuntary Limb Movements: Possible Rare Disorders Explained

Involuntary limb movements? My girlfriend occasionally experiences involuntary movements of her limbs while walking, and even her body or neck may twist! She mentioned that she and her brother have noticed this condition since childhood, but they do not know the cause, and it has...


Dr. Jian Yingxiu Reply:
Generally speaking, if the symptoms have been present since childhood, they are likely not related to Huntington's disease, but rather may be attributed to Tourette syndrome or other issues. Thank you.

[Read More] Understanding Involuntary Limb Movements: Possible Rare Disorders Explained


Understanding Meckel's Diverticulum: Causes and Long-Term Effects

Mekosh's chamber Could you explain the causes of Meckel's diverticulum? My parents always talk about it unclearly, but I really want to understand. Will there be any long-term effects as I grow up?


Dr. Qian Xinnan Reply:
1. Meckel's diverticulum is a congenital small pouch located on the wall of the distal ileum. The majority of patients are asymptomatic and do not require special treatment. Only a small number (approximately 1 in 25) of patients may present with gastrointestinal bleeding in...

[Read More] Understanding Meckel's Diverticulum: Causes and Long-Term Effects


Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges

Ectodermal dysplasia Dear Dr. Lin, I am your patient (the younger sister of two siblings) and I would like to ask if there are any results from our diagnostic tests. I am feeling extremely stressed; my in-laws are unaware of my condition, and my husband is also under significant...


Dr. Lin Ruli Reply:
Yulan: Genetic testing is a time-consuming and labor-intensive process, especially since the genes causing your symptoms have not yet been identified. I will do my best, but I cannot guarantee that we will find an answer. Mingchun has already provided you with some treatment reco...

[Read More] Understanding Ectodermal Dysplasia: Coping with Rare Disease Challenges


Understanding Hyperchromic Anemia: Causes, Care, and Thyroid Connection

Hypochromic anemia? Hello, Dr. Qian. Recently, a friend of mine opened a laboratory, and after a blood test, he told me that I have hyperchromic anemia. I still don't understand this condition. I searched for information online but couldn't find much, so I turned to you...


Dr. Qian Xinnan Reply:
1. Triiodothyronine (T3) levels may be associated with anemia or other diseases. It is recommended that patients in need seek consultation with a hematologist as soon as possible for further examination and relevant advice from a physician. 2. The online appointment booking websi...

[Read More] Understanding Hyperchromic Anemia: Causes, Care, and Thyroid Connection


Understanding Porphyria: Symptoms, Treatments, and Life Expectancy Explained

Porphyria is a group of rare inherited or acquired disorders that result from a buildup of natural chemicals that produce porphyrin Hello Dr. Hsiao: I would like to ask about the differences in symptoms between "erythropoietic protoporphyria" and "porphyria cutanea...


Dr. Xiao Huibin Reply:
Porphyria is a rare disease with an incidence of approximately 1 in 300,000. It is caused by abnormal enzyme activity in the synthesis of heme, leading to an excessive accumulation of porphyrins or their precursors in the body. Some patients have extremely sensitive skin, where e...

[Read More] Understanding Porphyria: Symptoms, Treatments, and Life Expectancy Explained


Overcoming Fear: Managing Rare Postpartum Anxiety and Breathing Issues

Anxiety Hello Dr. Chen! A friend of mine has been experiencing severe anxiety after childbirth, leading to panic attacks. She has undergone a full medical examination at the hospital, but no underlying medical conditions were found. She is particularly afraid of closed spaces, su...


Dr. Chen Shunsheng Reply:
Panic disorder falls within the scope of psychiatric treatment; please consult a psychiatric specialist for further guidance.

[Read More] Overcoming Fear: Managing Rare Postpartum Anxiety and Breathing Issues


Understanding Tuberous Sclerosis: Managing Symptoms and Medication Effects

急 is not a complete Hello, I apologize for bothering you. I have a 9-year-old boy who is currently in the second grade of elementary school. He just advanced to the third grade. When he was four years old, he experienced absence seizures and involuntary hand movements, after whic...


Dr. Lai Xiangrong Reply:
Dear Mr. Chen, I am on my way to Paris. The system is asking me to respond to your question. The computer in Paris does not support Chinese characters. I am unsure if you will be able to understand this message. If possible, please ask them to invite another doctor to answer yo...

[Read More] Understanding Tuberous Sclerosis: Managing Symptoms and Medication Effects


Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?

Heart My daughter is 12 years old. Last summer, her right leg started to shake involuntarily. The duration varies; sometimes it stops after 5 minutes, and other times it can last for 25 hours. All physical examinations have come back normal. Could this be Tourette syndrome?


Dr. Chen Shunsheng Reply:
The following conditions can cause tremors in the hands and feet: 1. Tourette syndrome 2. Focal motor epilepsy 3. Peripheral nerve dysfunction: Often seen in various early peripheral neuropathies, commonly accompanied by muscle cramps or twitching symptoms 4. Essential tremor: A ...

[Read More] Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?


Understanding Gai's Bacillus: Prevention and Treatment of Rare Disease

Gastroenteritis bacteria What is Clostridium perfringens? How can it be prevented? If an infection occurs, how should it be treated?


Dr. Chen Ming Reply:
Hello, Xiaoling. I apologize for the delay in responding to your message, as I was working at National Taiwan University Hospital for the entire last year and have just returned to Changhua Christian Hospital. Regarding the organism you referred to as "伽氏桿菌," its scient...

[Read More] Understanding Gai's Bacillus: Prevention and Treatment of Rare Disease


Understanding ALS: Current Treatments and Prevention Strategies for Longevity

Hello? Currently, there is no cure for Amyotrophic Lateral Sclerosis (ALS), but there are medical treatments available that can help manage symptoms and potentially prolong survival. Riluzole is the most commonly prescribed medication, which may slow the progression of the diseas...


Dr. Chen Shunsheng Reply:
Many neuromuscular diseases cause progressive muscle atrophy, including progressive muscular atrophy, spinal muscular atrophy, and motor neuron diseases, among others. Among these, motor neuron diseases progress the fastest. Motor neuron disease refers to the progressive degenera...

[Read More] Understanding ALS: Current Treatments and Prevention Strategies for Longevity


Understanding Platelet Dysfunction: Bone Marrow Stem Cell Transplant Explained

Thrombocytopenic purpura Thank you for your response. I now have a glimmer of hope. I would like to ask, what is a bone marrow stem cell transplant? Does it refer to umbilical cord blood? Which hospitals in Taiwan have had successful cases? Where can I obtain relevant information...


Dr. Qian Xinnan Reply:
Dear Sir/Madam, Regarding bone marrow stem cell transplantation, it refers to hematopoietic stem cells from the bone marrow. Currently, the sources of stem cells include bone marrow, peripheral blood, and umbilical cord blood. If you have any questions, please consult your atten...

[Read More] Understanding Platelet Dysfunction: Bone Marrow Stem Cell Transplant Explained


Understanding Crohn's Disease: Why It's Not Classified as a Rare Disease in Taiwan

Crohn's disease I would like to ask Dr. Jian why Crohn's disease is not classified as a rare disease. I have heard from my attending physician that its incidence is very low among East Asians, and it is somewhat related to genetic factors. Is it true that in Taiwan, the...


Dr. Jian Yingxiu Reply:
Currently, the rare diseases defined by the Rare Disease Act refer to diseases with a prevalence rate below the standards set by the central competent authority and recognized by the committee as specified in Article 4, or those designated by the central competent authority due t...

[Read More] Understanding Crohn's Disease: Why It's Not Classified as a Rare Disease in Taiwan


Understanding Periventricular Leukomalacia: Rehabilitation Strategies for Infants

Periventricular white matter softening Hello Dr. Chen, I would like to consult you regarding my daughter, who is currently 21 months old, almost 22 months. She was born prematurely at 29 weeks as part of a set of twins, with the older sister weighing 1296 grams and the younger s...


Dr. Chen Shunsheng Reply:
Please have a pediatric neurologist confirm the diagnosis. Once the diagnosis is established, take the child to the early intervention treatment program. This program is subsidized by the Department of Health and primarily provides developmental assessment tools for physical ther...

[Read More] Understanding Periventricular Leukomalacia: Rehabilitation Strategies for Infants


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