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Charcot-Marie-Tooth UK
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My daughter nearly 9 years ago when she was 11 was given a blood test for the gene deletion I have which causes my HNPP. At that time it was inconclusive , however now shes about to go into her early 20's she has started with the exact same symtpoms I had from many years ago and is in alot of pain with her shoulder when driving , and knees when sitting for long periods , back pain when walking for long periods and hip pain when laying on her side for long periods. She is worried about the nerve conductiom tests I had and being fuelled with strong pain killers if diagnosed. Do you think she has it ? What would you do?



5 Replies

Hi Pam. I think I would ask for a genetic blood test to get to the bottom of whether or not your daughter has HNPP and take it from there. It sounds as if she does have it, but the blood test should be able to confirm it now.


i think first and foremost she needs to see a gp who can then arrange what she needs to have


Hi if she is worried about the nerve induction she needn't as it is not painfull speaking from experience. However I also suffer a lot with bodily pain and it does effect your capabilities in every day life, but it is upto her if she needs pain relief even tho I'm on pain management meds I still suffer a great deal with all over pain so depends if she can manage without meds but my guess is no. And so there maybe days when it bogs you down and days when you got a bit of get up n go, I wish you and her the best

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Thanks gunner a nice positive response, i too am like you with pain meds not doing much at all with being on them soo long. Good days ate few and far between but when they are there i too grab them and do things i have left because of the pain

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Hello to Pam49,

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP): This disease>(HNPP) is an inherited >(gene mutation is passed by parent to an 'offspring') neuropathy>(any disease of nerves), with liability to pressure palsies>(HNPP):

It is a relatively common, though much 'under-diagnosed', neurological hereditary disease in which a fairly mild pressure, or trauma to a "single-nerve" results in episodes, or periods of painful numbness and weakness, similar to an arm or leg going to sleep:

Unlike a limb going to sleep for a few seconds, each episode of numbness can last from several minutes, to several days or months. The most common sites are the wrists, in conjunction with carpal tunnel syndrome, the elbows, and the knees.

HNPP is an inherited neurological disease, normally passed from a>(parent to their offspring) in an autosomal dominant manner, which means that each child of a person with HNPP has a 50/50% chance of inheriting the genetic mutation:


It may be sometimes misdiagnosed as Charcot-Marie Tooth disease, or Bell's palsy. HNPP, like Cmt is a progressive, and ever 'so-slowly' worsening neurological hereditary disease, but somtimes the symptoms can be so mild that they go unnoticed:

You cannot "catch" both of these neurological diseases, you inherit them from a parent :

For some people, there are years between episodes, while others have mild symptoms that progress at a more steady rate:

However, Cmt and HNPP, are totally separate neurological disease's :

There is no treatment currently, for both HNPP, and Cmt disease's other than symptomatic measures, including positive personal management, and avoiding positions that can create pressure such as leaning on elbows, crossing legs or ankles, or sitting for too long without changing position: It is also essential that you keep yourself "mobile, for as long it is possible:

However, that is when the Cmt Catch 22" kicks in ?

a) Mobility, If you choose "TO" exercise, you will as result, then suffer from fatigue and weariness from your physical exertions:

b) However, If you do choose "NOT" exercise, then your muscles will become "floppy", and over a long time they will become atrophied, wasted and withered: Your first "port of call" is via, a sympathetic G.P. who should refer your daughter to a NHS Clinical Consultant Neurologist, who may arrange further test's to help them reach a confirmed diagnosis, and advise her, of what exactly is her exact type of disease ?

a) Neurological examination, would normally include b) test of the bodies many reflex points: c) A check of your current balance condition, with your eyes closed : d) A visual check of both your hands, (example) has your "Brevis-Muscle" sited between your thumb, and forefinger wasted away ?

e) Blood/DNA Testing samples, are usually sent off to a specialist University laboratory, (allow 6/8 weeks for results): The cost to the NHS for this DNA testing is £8000/£10000 'circa' for each individual patient's diagnosis !

Question ? So perhaps we all now know, and understand the "real" reason why so many NHS Neurologists are trying to reach, and establish a confirmed Cmt diagnosis without instructing this most expensive of blood test's to their limited NHS Trust budget ? >Peripheral Nervous System's, Velocity (nerve/speed) Testings, (can be uncomfortable): >Your Neurologist may also refer you to other NHS Pain Relief Clinics:

Most readers of 'Health Unlocked', will understand your worry, and the total frustration with both of these Neurological Disease's:

Question ? "Why o' why" are our UK health professionals so reluctant to explain their diagnosis, and prognosis>(forecast) to their patients ?

However, always call it a neurological disease ? It is not a condition, syndrome, disorder, ailment, etc etc, it is an "ever so slow" debilitating "Neurological-Disease" !

Best of health to you, and to your daughter:




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