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

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

https://hnppwellbeing.com/category/medication/

HNPP Wellbeing

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.

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。