Research papers discussing pain experienced by some people with CMT

[Guest guest]

I've seen various messages saying that some doctors are unaware that

some people with CMT experience various types of pain.

I don't get pain myself, but today I carried out a web search and

found four references that might be handy when trying to convince

doctors if you are experiencing pain in connection with your CMT:

(1) at page http://www.jr2.ox.ac.uk/Bandolier/painres/MApain.html

there is mention of the following research paper (which you can

probably acquire with the assistance of a good library)

GT, Jensen MP, Galer BSea. Neuropathic pain in Charcot-Marie-

Tooth-Disease. Arch Phys Med Rehabil 1998; 79(Pt. 12):1560-4. [5087]

(2) following text is an extract from copy of webpage

http://www.iuhs.webnet.net/GMP/SAM/chapters/11_NEUROLOGY/peripheral_ns

..html

(note, this link will probably not work correctly here because it is

longer than one line - so you will need to copy and paste the whole

address to your browser)

Section 11 Chapter II DISEASES OF THE PERIPHERAL NERVOUS SYSTEM

October 1998

...... (extract follows)...

Inherited Polyneuropathies

Inherited polyneuropathies are common and frequently overlooked,

especially in adults. 6 Patients often remain relatively asymptomatic

for many years and, therefore, may not seek medical advice until

middle age or later. A history of very slow progression of symptoms

over years is suggestive of an inherited cause. In inherited

polyneuropathy, a patient's complaint of numbness usually

means decreased sensation, whereas the presence of prickling or pins-

and-needles paresthesia favors an acquired cause. However, the

complaint of burning feet is nonspecific, occurring in both inherited

and acquired polyneuropathies. As a rule, inherited neuropathies

begin and progress symmetrically; asymmetrical progression suggests

an acquired polyneuropathy. Once inherited polyneuropathy is

suspected, proving the diagnosis may require considerable effort.

Simply asking the patient about a family history of neuropathy is

seldom productive. Questioning should be more general, such as

whether anyone in the family has foot complaints, has a foot

deformity (especially high arches), or requires special shoes, canes,

or braces. A negative family history does not exclude a diagnosis of

inherited neuropathy. Because of its chronicity or mildness, or both,

the condition often goes unrecognized in a family. In recessive

cases, by definition, neither parent is affected, and siblings may be

spared. Paternity may be less well established than it appears. The

most effective next step is to examine first-degree relatives,

particularly those with any history of foot or walking troubles.

Although this procedure is time-consuming, it has a good yield and is

more cost-effective than a barrage of laboratory tests that may all

prove negative. Knowledge about the specific genetic defects related

to various inherited neuropathies is expanding rapidly, 18 but

clinical classification remains important. Traditionally, the

inherited neuropathies are divided into three main categories

according to clinical features: (1) hereditary motor and sensory

neuropathy, (2) hereditary sensory and autonomic neuropathy, and (3)

hereditary motor neuropathy (also called spinal muscular atrophy) [

see Table 4]. Genetic testing for some inherited neuropathies is now

available (particularly for defects in the PMP22 gene in Charcot-

Marie-Tooth disease type 1). Although there are still no specific

therapies for inherited neuropathies, correct diagnosis remains

important for prognosis, education, and genetic counseling. In

general, the deficits in inherited neuropathies progress very slowly,

life expectancy is normal, and most patients remain ambulatory all

their lives.

(3) there was apparently an article in a publication called

The Pain Clinic

Volume 2, No. 3, pp. 137--192, 1988

Original articles in this publication included :

Chronic pain and Charcot--Marie--Tooth disease: an international

survey

P. A. J. Hardy 153

(Don't know if article is any good, apparently available from

VSP, P.O. Box 346, 3700 AH Zeist, The Netherlands

Tel: +31 30 692 5790, Fax: +31 30 693 2081

E-mail: vsppub@... )

(4) and finaly I came across a fact sheet (No 14) dated about 1995

that might help from a CMT group in Australia - I haven't got the web

address handy but I think others will have come across it.

Hope some of this is useful!

(in Sydney)