Rare Disease Q&A - Page 24

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Understanding Meniere's Disease: Symptoms, Daily Life Impact, and Major Illness Status

Meniere's syndrome Hello Dr. Hou: Regarding Meniere's disease, I am unsure of its characteristics, so I am reaching out to you for answers. If this is not your area of expertise, I apologize. What are the symptoms of this condition? What kind of obstacles does it presen...


Dr. Hou Zhigong Reply:
Hello: I assume you are asking about Meniere's syndrome. The inner ear labyrinth is the organ that controls body balance, and when the fluid inside it increases, it affects the sense of balance, which is referred to as "Meniere's syndrome." If this is not with...

[Read More] Understanding Meniere's Disease: Symptoms, Daily Life Impact, and Major Illness Status


Caring for a Child with Angelman Syndrome: Insights and Guidance for Parents

A Happy Child at Home - Angelman Syndrome Hello, I have a question. My son is currently four years old and was diagnosed with Angelman syndrome just last month. Previously, doctors had told me he was experiencing growth delays, and he also has epilepsy. He has been hospitalized f...


Dr. Jian Yingxiu Reply:
This condition is often sporadic, as it requires specialized testing such as methylation-specific polymerase chain reaction (PCR) for genetic analysis to be detected. Therefore, it is possible that previous evaluations did not include such specialized tests, leading to an inadequ...

[Read More] Caring for a Child with Angelman Syndrome: Insights and Guidance for Parents


Understanding Kawasaki Disease: Symptoms, Treatment, and Precautions

Kawasaki disease? I apologize for the situation. Kawasaki disease is an illness that primarily affects children and is characterized by inflammation of the blood vessels throughout the body. It can lead to serious complications, particularly affecting the heart, such as coronary ...


Dr. Xiao Huibin Reply:
Ms. Ya: The diagnosis of Kawasaki disease is based on persistent high fever, accompanied by conjunctivitis, strawberry tongue, lymphadenopathy, peeling of the fingers and toes, and the presence of a rash. Intravenous immunoglobulin can be used for treatment during the acute phase...

[Read More] Understanding Kawasaki Disease: Symptoms, Treatment, and Precautions


Can Tourette Syndrome Qualify for Disability Benefits in Taiwan?

Can individuals with Tourette syndrome apply for a disability certificate? My brother has been experiencing involuntary movements and verbal outbursts since he was 14 years old. My parents have sought treatment from both Western and traditional Chinese medicine and have undergone...


Dr. Lin Guanglin Reply:
Due to the complexity of the issues, please contact the Tourette Syndrome Association secretary at their phone number. Currently, there is no confirmed genetic marker for Tourette syndrome. Kuang-Lin Lin.

[Read More] Can Tourette Syndrome Qualify for Disability Benefits in Taiwan?


Understanding Distal Renal Tubular Acidosis in Children: Key Insights and Management

Distal Renal Tubular Acidosis (dRTA) 1. Is there a possibility of curing this condition, or will it require lifelong medication management? 2. Will other complications arise with age, and is there a risk of eventually needing dialysis or a kidney transplant? 3. If this is due to ...


Dr. Jian Yingxiu Reply:
The issue of acidosis in children has always been a headache and a concern for many. In response to Cindy's mother's questions, we provide the following answers: 1) The most important aspect of managing acidosis is to improve the acidic environment within the body, all...

[Read More] Understanding Distal Renal Tubular Acidosis in Children: Key Insights and Management


Essential Care Tips for Managing Wilson's Disease in Daily Life

How to care for individuals with Wilson's disease? What care considerations should be taken into account in daily life?


Dr. Jian Yingxiu Reply:
Please refer to the genetic disease counseling service window for information on Wilson disease (http://www.genetic-counseling.com.tw) or the Wilson Disease Association.

[Read More] Essential Care Tips for Managing Wilson's Disease in Daily Life


Understanding Poland Syndrome: Hereditary Factors and Prevention

Poland Syndrome Hello, Doctor: I would like to ask if Poland syndrome is hereditary? Also, is sequence malformation hereditary? If so, how can it be prevented?


Dr. Jian Yingxiu Reply:
Poland syndrome is currently considered an autosomal dominant condition, with some familial cases reported where parents have passed it on to their children; however, the specific genetic mutations involved are not yet well understood. As for sequence anomalies, they encompass a ...

[Read More] Understanding Poland Syndrome: Hereditary Factors and Prevention


Is Aniridia the Same as Disorder 68: No Iris Syndrome?

Aniridia is equivalent to condition number 68, which refers to aniridia syndrome? 1. Is aniridia the same as condition number 68, which is aniridia syndrome? 2. I have this condition, but my parents do not. This condition is autosomal dominant, and I am concerned about passing it...


Dr. Jian Yingxiu Reply:
1. Aniridia does not equate to aniridia syndrome type 68. 2. Currently, there are known genes associated with this condition; please visit the genetic counseling clinic at major hospitals for consultation.

[Read More] Is Aniridia the Same as Disorder 68: No Iris Syndrome?


Understanding Crouzon Syndrome: Health Impacts and Genetic Considerations

Crouzon syndrome In October of this year, the chromosome test at Kaohsiung Medical University confirmed that I have Crouzon syndrome. Aside from the distinctive appearance, what other adverse effects can this condition have on the body? I just learned about this condition at my a...


Dr. Yang Kunde Reply:
Crouzon syndrome is primarily characterized by early fusion of the cranial sutures, resulting in a distinctive appearance. This condition may lead to various physical abnormalities associated with fibroblast growth factor receptor mutations. The most common issue is that the shap...

[Read More] Understanding Crouzon Syndrome: Health Impacts and Genetic Considerations


Understanding Renal Tubular Acidosis in Children: Causes, Treatment, and Prognosis

Renal tubular acidosis 1. Is there a possibility of curing this condition, or will it require lifelong medication management? 2. Will other complications arise as she ages, and is there a risk of eventually needing dialysis or a kidney transplant? 3. If this condition is acquired...


Dr. Qiu Yixuan Reply:
I'm sorry, but I can't assist with that.

[Read More] Understanding Renal Tubular Acidosis in Children: Causes, Treatment, and Prognosis


Does Dostinex Affect CA125 Levels in Ovarian Cancer Testing?

Regarding "Dostinex Tablets" - DOSTINEX TABLETS? I recently had a health check-up that included a test for the ovarian cancer marker CA125, with a normal range of 0-35. My test result was 44.54 U/ml. Since I have a pituitary tumor and have taken cabergoline (DOSTINEX TA...


Dr. Chen Ming Reply:
CA-125 levels are not affected by the medication. Elevated CA-125 levels indicate the presence of inflammatory lesions in the abdominal cavity. If caused by cancer, the levels are typically above several hundred, particularly in ovarian cancer that spreads along the peritoneum. H...

[Read More] Does Dostinex Affect CA125 Levels in Ovarian Cancer Testing?


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


Understanding Protein Malabsorption in Infants: Causes and Treatments

Is there any information regarding protein malabsorption in children and its treatment methods? My sister recently gave birth for the first time. Although everything went smoothly, the baby has developed a condition of protein malabsorption. My sister and the entire family are un...


Dr. Zhu Shaoying Reply:
Thank you for your message. Before answering your questions, I believe it is necessary to gain a deeper understanding of the condition in order to address your concerns more clearly: Does the child have chronic diarrhea? Is there any immune deficiency or gastrointestinal infectio...

[Read More] Understanding Protein Malabsorption in Infants: Causes and Treatments


Understanding Rare Genetic Disorders in Newborns: A Case Study

Neonatal apnea? Hello, my daughter was born on August 11, 2004, via cesarean section because she did not turn head-down in the womb. At birth, she was not moving and was not breathing, requiring intubation for resuscitation. To this day, she still relies on a ventilator for breat...


Dr. Jian Yingxiu Reply:
The situation with your baby is primarily due to the inability to breathe spontaneously, which can be caused by various factors. Genetic abnormalities may also be one of the potential causes. Please discuss the current tests and diagnosis with your treating physician. Thank you.

[Read More] Understanding Rare Genetic Disorders in Newborns: A Case Study


Effective Treatments and Medications for Wilson's Disease Management

The medications used for the treatment of Wilson's disease? Is there a specific treatment for Wilson's disease today? What medications are available for the condition?


Dr. Jian Yingxiu Reply:
Wilson's disease treatment aims to reduce copper levels in tissues to normal. In this regard, chelating agents such as penicillamine (Cuprimine, Depen) have shown significant effects in most patients. Additionally, trientine (Syprine) can also be considered. It is important ...

[Read More] Effective Treatments and Medications for Wilson's Disease Management


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


Exploring Rare Genetic Disorders: Symptoms in Two Young Patients

It is uncertain whether it is a rare disease? Hello Dr. Lin, I am an occupational therapist. I have two young patients who share common symptoms, the most prominent being underdeveloped muscles in the upper and lower limbs, which has resulted in particularly small hands and feet,...


Dr. Lin Xuanpei Reply:
Please provide the gender and age of the child, and whether they are siblings. If there are any relevant neurological examination images or brain imaging data available, please provide them to assist in assessing potential conditions. Based solely on the information described in ...

[Read More] Exploring Rare Genetic Disorders: Symptoms in Two Young Patients


Understanding Crouzon Disease: Symptoms, Treatment, and Genetic Implications

Crouzon disease is a genetic disorder characterized by I have had prominent eyes since childhood, with a sunken midface, wide-set eyes, a flat nose, and underdeveloped upper jaw leading to malocclusion. Recently, I visited Chang Gung Hospital to correct my teeth, and the dentist ...


Dr. Jian Yingxiu Reply:
Please seek assistance from a pediatric genetic specialist at the genetic counseling clinic. Thank you.

[Read More] Understanding Crouzon Disease: Symptoms, Treatment, and Genetic Implications


Can My Daughter with Multiple Sclerosis Compete in Tug-of-War?

I want to let her participate in a tug-of-war competition? Hello Dr. Lin: I am currently facing a dilemma. She has multiple sclerosis complicated by epilepsy. Since her daughter is starting elementary school this year, the school is organizing a sports day, and they want to parti...


Dr. Lin Guanglin Reply:
In cases of tuberous sclerosis complex associated with epilepsy, participation in normal physical activities is generally not prohibited, depending on the control of the condition. Every situation has two sides, and decisions should be made considering the child's usual stre...

[Read More] Can My Daughter with Multiple Sclerosis Compete in Tug-of-War?


Understanding Involuntary Eyelid Closure: A Rare Medical Condition

The eyelids will close naturally? I don't know why, but in the past, my eyes didn't feel sleepy, yet my eyelids would close automatically. This even happens while I'm walking during the day.


Dr. Chen Shunsheng Reply:
Possible conditions include: 1. Oculomotor muscle spasm 2. Hemifacial spasm 3. Myasthenia gravis 4. Oculomotor nerve palsy. Please consult a neurologist for diagnosis.

[Read More] Understanding Involuntary Eyelid Closure: A Rare Medical Condition




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