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 Neuromuscular Diseases: Diagnosis and Testing Options
Neuromuscular diseases Hello Dr. Chen, I have been experiencing weakness in my limbs recently. I went to Kaohsiung Medical University for relevant tests, but they couldn't find any issues. I ultimately chose to pay out of pocket for whole exome sequencing. 1. I would like ...
Dr. Chen Shunsheng Reply:
Clinical presentation should be the basis for decision-making; it cannot be generalized. It is important to consult several physicians from relevant specialties in clinical practice.[Read More] Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Can Exome Sequencing Identify Rare Neuromuscular Disorders?
Whole exome sequencing Hello, doctor. Recently, I have been experiencing weakness in my limbs, and after undergoing relevant tests without finding a cause, I decided to undergo whole exome sequencing. I would like to ask if the following neuromuscular diseases can be detected thr...
Dr. Jian Yingxiu Reply:
Hello: The causes of these diseases may not be fully identifiable with current whole exome sequencing techniques. Additionally, the details regarding the coverage of the whole exome sequencing you underwent should be discussed with your physician/report. A more comprehensive unde...[Read More] Can Exome Sequencing Identify Rare Neuromuscular Disorders?
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
Unexplained Facial Atrophy: Seeking Answers for Rare Conditions
Facial atrophy of unknown origin? Hello Doctor, I have noticed a depression on my forehead over the past two years, accompanied by occasional tightness and mild pain. In cold weather, I even experience a sensation of numbness on the left side of my face. Earlier this year, I visi...
Dr. Chen Shunsheng Reply:
It sounds very much like hemifacial lipodystrophy. It is recommended to consult a neurologist specializing in neuromuscular diseases or an experienced rheumatologist.[Read More] Unexplained Facial Atrophy: Seeking Answers for Rare Conditions
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