Q What vitamins should I take for HNPP? We are not aware of any specific dietary restrictions for HNPP patients. A high dose of vitamin C has been shown to reduce PMP22 levels. We recommend that HNPP patients avoid consuming high doses of vitamin C. However, we do not see any problems with a regular dose (75-90mg daily) of vitamin C. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Charcot–Marie–Tooth Association https://www.cmtausa.org › types-of-cmt › hereditary-neu... Is there a cure for HNPP? There''s no cure for HNPP, but there are things you can do to help manage your condition. If you start to experience symptoms, try to avoid: prolonged sitting with your legs crossed. Hereditary neuropathy with pressure palsies (HNPP) - NHS NHS https://www.nhs.uk › conditions › hereditary-neuropathy UQ
EvenOdd 发表于 2024-11-22 11:15 Q What vitamins should I take for HNPP? We are not aware of any specific dietary restrictions for HNPP patients. A high dose of vitamin C has been shown to reduce PMP22 levels. We recommend that HNPP patients avoid consuming high doses of vitamin C. However, we do not see any problems with a regular dose (75-90mg daily) of vitamin C. Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Charcot–Marie–Tooth Association https://www.cmtausa.org › types-of-cmt › hereditary-neu... Is there a cure for HNPP? There''s no cure for HNPP, but there are things you can do to help manage your condition. If you start to experience symptoms, try to avoid: prolonged sitting with your legs crossed. Hereditary neuropathy with pressure palsies (HNPP) - NHS NHS https://www.nhs.uk › conditions › hereditary-neuropathy UQ
c17p12 It seems a pretty obvious diagnosis based on DNA testing. https://www.cmtausa.org/understanding-cmt/types-of-cmt/hereditary-neuropathy-with-liability-to-pressure-palsies/ https://baike.baidu.com/item/%E9%81%97%E4%BC%A0%E6%80%A7%E7%A5%9E%E7%BB%8F%E6%80%A7%E8%82%8C%E8%90%8E%E7%BC%A9/17003515?fr=ge_ala Wishing the poster all the best for the treatment.
ddup22 发表于 2024-11-22 11:41 回复 25楼 ddup22 的帖子 You may find patient information at https://www.cmtausa.org/our-research/for-researchers/strategic-partners/
回复 31楼 mianchaodahai 的帖子 Consult with your primary care physician and the main treatment doctor, and seek their professional opinion regarding the possibility of passing down PMP22 to the next generation. Additionally, discuss any available baby screening options to ensure you are well-informed about your reproductive health.
你是不是经常数钱数的手发麻
怎么个手麻法？年龄？ 我也是手麻，但是最近几年得事。查不出什么原因
人家基因都测出来了你还在这血管呢….
HNPP是挺烦的，就是一般人要很严重的压迫才会导致的neuropathy，HNPP病人就会很容易压迫，并且会同时出现在多处神经症状。平时要非常注意。20-30岁以后开始发病。用电脑，把手搁椅子上，交叉腿，上厕所这些都要非常小心。
一般显性遗传，发病了就是AA，说明孩子都是携带者。
手麻就是carpal tunnel，ulnar neuropathy，small fiber neuropathy或者颈椎病里一个，找神经科医生看看喽
楼主这个肯定不止是手麻。不是反复多次不同神经受损是不会去查HNPP 基因的。楼主应该还是碰到了一个不错的医生
你尝试过镁补充剂吗？
我自己最近在咨询了中医后，按照中医的介绍尝试了中成药。
现在好像慢慢好了，效果不错。拭目以待吧。
手麻是什么原因造成的？
手麻木可能由手臂和手腕的一条神经或神经分支受到损伤、刺激或压迫所致。 糖尿病等影响周围神经的疾病也可能引起麻木感，但糖尿病引起的麻木感往往首先出现在足部。 在极少数情况下，麻木感可能由脑或脊髓问题引起。 当这种情况发生时，还会出现手臂或手无力或丧失功能。
妙佑医疗国际- 手麻木病因 - Mayo Clinic Mayo Clinic https://www.mayoclinic.org › causes › sym-20050842
手麻别大意小心5种病来袭 新华网 http://news.xinhuanet.com › mil 3 Nov 2015 — 手麻别大意小心5种病来袭 · 1、血管因素. 当我们坐久或坐的姿势不好，会引起下肢麻木，当手放的姿势不对时亦会麻，一松懈，有如千万只蚂蚁在爬。 · 2、神经 ...
手麻不是小问题！可能与脑梗相关！ 吉林省卫生健康委员会 http://wsjkw.jl.gov.cn › zdzt › jkkp 18 May 2021 — 临床中，有近七成手麻症状是由神经根型颈椎病引起的。 由于颈椎间盘退行性、继发性病理改变，神经根受压，引起相应神经分布区疼痛等表现。
UQ
大学的人类基因中心抽的血
大学的人类基因中心
我40出头，三年前开始手麻
医生说的是压力性的，所以他说出来那一刻，我就明白了，以前的很多身体反应都能对得上号，而且家里人都有类似的问题
MM是神经科的医生吗？我其实三年前去看了一个neurologist说我是腕管综合征，建议手术，后面发现我自己症状更符合肘管综合症，我也告诉了我家庭医生，他建议我在找个医生，这个医生，我在网上找了很久，评价很好。最后去检查，小一个小时，测了很多神经，我就知道，我找对医生了
We are not aware of any specific dietary restrictions for HNPP patients. A high dose of vitamin C has been shown to reduce PMP22 levels. We recommend that HNPP patients avoid consuming high doses of vitamin C. However, we do not see any problems with a regular dose (75-90mg daily) of vitamin C.
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Charcot–Marie–Tooth Association https://www.cmtausa.org › types-of-cmt › hereditary-neu...
Is there a cure for HNPP? There''s no cure for HNPP, but there are things you can do to help manage your condition. If you start to experience symptoms, try to avoid: prolonged sitting with your legs crossed. Hereditary neuropathy with pressure palsies (HNPP) - NHS NHS https://www.nhs.uk › conditions › hereditary-neuropathy
UQ
https://hnppwellbeing.com/category/medication/ HNPP Wellbeing
https://www.cmtausa.org/understanding-cmt/types-of-cmt/hereditary-neuropathy-with-liability-to-pressure-palsies/
https://baike.baidu.com/item/%E9%81%97%E4%BC%A0%E6%80%A7%E7%A5%9E%E7%BB%8F%E6%80%A7%E8%82%8C%E8%90%8E%E7%BC%A9/17003515?fr=ge_ala
Wishing the poster all the best for the treatment.
You may find patient information at https://www.cmtausa.org/our-research/for-researchers/strategic-partners/
非常感谢
非常感谢
这个还挺罕见的。
看了一下，最常见的是PMP22 duplication, 这个是常染色体显性，就是父母中的一方也是病人，然后子女有50% 的概率发病。
文中所说的基因缺失，难道是 compound heterozygous?--假定LZ父母没有亲缘关系。刚好两个人都携带一个copy的deletion/mutation, LZ不幸 (25%的概率) 从父母双方各继承了那个有缺陷的基因。 往好了想，LZ孩子不会发病--假定孩子的爸爸不是携带者。
是的，神经科的。 找neuromuscular specialist 就对了。病史、神经体检、加上EMG检查就差不多有方向了。好的医生体检会做得特别好。
我没有孩子，还在考虑要不要生孩子
Consult with your primary care physician and the main treatment doctor, and seek their professional opinion regarding the possibility of passing down PMP22 to the next generation. Additionally, discuss any available baby screening options to ensure you are well-informed about your reproductive health.