Page 12 - 2020 Spring CMTA Report

HNPP and optimize quality of life. We
(continued from page 7) advise HNPP patients to avoid the
physical activities (compression,
demyelinating polyneuropathy prolonged stereotypic movements
(CIDP) or idiopathic axonal and over-stretching) that may
polyneuropathy, among others. bring on symptoms. However,
A high index of suspicion is often we do not advocate a sedentary This past January, the CMTA
rolled out CMTActive ™ ,
needed to reach the diagnosis in lifestyle since this may lead to a new Facebook group aimed
patients with episodes of focal obesity and metabolic problems. at encouraging, inspiring and
sensory loss or weakness. Thus, activities should be tailored cheering members on to fight
An electromyogram/nerve for individuals to have adequate CMT through movement.
conduction study (EMG/NCS) is exercise without triggering nerve As moderator Benjy
an important diagnostic tool for symptoms. Hershorn explains, “Being
HNPP (see related article p. 10). Many patients with HNPP CMTActive is a lifestyle and a
mindset. CMTActive means taking
It shows changes in areas where complain of pain, whether focal small steps each day to better
peripheral nerves are exposed symptoms are present or not. your physical health. CMTActive
to mechanical pressure, such as Those with true neuropathic pain means finding and adapting the
the ulnar nerve at the elbow or (sharp, burning, tingling, highly sports and activities that you
median nerve at the wrist. This sensitive to touch) tend to be love, cherishing your body and
giving it the support and care it
finding should prompt physicians responsive to treatments. Others deserves to take control over
to perform DNA testing. may not exhibit features of neuro- CMT.” Other moderators include
DNA testing allows pathic pain and the pain may be Julie Glover Barnett, Julie Stone,
physicians to reach a definitive difficult to control. Physicians Leslie Nagel, Elizabeth Ouellette
diagnosis. It should be noted that may have to seek additional fac- and contributor Bethany Noelle
unlike the majority of lab tests, tors contributing to the pain, such Meloche.
The group welcomes par -
which use blood samples from a as inadequate ankle braces causing ticipation, tips and guidance from
red-top tube, blood samples for overuse of leg muscles, etc. a wide range of participants,
DNA testing should be collected On the medication front, from beginners to experienced
in a purple-top tube that contains severe side-effects have been fitness enthusiasts, with one
a chemical to prevent the blood reported in patients with CMT1A common goal—to keep moving.
CMTActive content includes a
from clotting. This is necessary for who took Vincristine and devel- growing library of videos that
DNA extraction. If a red-top tube oped limb paralysis. This is a demonstrate movement and
is mistakenly used, clotted samples difficult subject to study in exercise that can be done at
will be rejected by the lab and the patients with HNPP due to ethi- home! In just over a month,
patient may have to return to the cal issues. However, an HNPP CMTActive exploded to 800+
clinic for another blood draw. animal model shows slower recov- members.
Technology and the social
The HNPP mutation is usu- ery from nerve damage. We network allow CMTActive to
ally tested using a technique called believe that patients with HNPP engage with group members
multiplex PCR. In rare cases, this should be carefully monitored for who live all over the world,
technique may not detect the side-effects when they receive any something that’s much needed
mutation. If the clinical suspicion new medications. at a time when everyone has
to stay at home and practice
is strong, alternative techniques We are not aware of any spe- social distancing.
would have to be used to clarify cific dietary restrictions for HNPP Benjy said he truly believes
the diagnosis. In a few reported patients. A high dose of vitamin C that “The lessons learned in living
cases, the patient’s HNPP was not has been shown to reduce PMP22 with a chronic illness in general,
caused by a missing copy of the levels. We recommend that HNPP and with CMT specifically, can
PMP22 gene, but by an altered patients avoid consuming high help us cope with the uncertainty
of the current coronavirus crisis.”
DNA sequence in the PMP22 doses of vitamin C. However, we He says he is “clear-eyed AND
gene that multiplex PCR cannot do not see any problems with a concerned,” and that he remains
detect, but DNA sequencing can. regular dose (75-90mg daily) of optimistic and ready to give
There is currently no cure for vitamin C. This issue needs to be support and encouragement to
HNPP and clinical management further investigated in carefully those who are in need.
mainly aims to alleviate symptoms designed studies. h

12 THE CMTA REPORT SPRING 2020