Friday, 28 December 2012



A Practical Guide – Part TWO

Compiled by CMT International UK

Some more information on CMT along with possibly more that friends and family may recognise are strangely familiar or roughly translated ... "my god! he has been on about that for bloody years!?!" LMAO!!

CMT is not widely understood. (YOU DON'T SAY?!?!) (Page 5)

Affects 1 in 2500 of global population. (Page 5)

Common GP response is that there is nothing that can be done for them and to go home and put up with it. (!) (Page 5)

It can cause chronic pain and fatigue and in rare cases may cause severe disability. (Page 5)

Is not life threatening and does not affect life expectancy. (longevity) (Page 5)

The effects of CMT can vary enormously in severity even within members of the same family. Usually though the symptoms are not severely disabling and often do not change a great deal after a person has finished growing, although technically speaking they are progressive. 
(Page 13)

It is possible to carry the genetic disorder that causes CMT yet display no symptoms. 
(Page 13)

10 – 20 per cent of all affected individuals have no symptoms whatsoever. 
(Page 13)

CMT causes sudden increase in growth at puberty. (affected me and noticed by my father)
(Page 14)

People with CMT have difficulty in obtaining comfortable shoes. (Well what can I say that I have not?!) 
(Page 14)

It is very rare for people with CMT to lose the ability to walk completely; however, aids such as walking sticks or orthoses may be needed in later life and in very rare cases a wheelchair may be necessary. 
(Page 14)

Another characteristic of CMT is a burning or stabbing pain in the leg caused by the damaged nerves themselves. Leg cramps and Restless Leg Syndrome (jumpy when tired) is also common. 
(Page 14)

Weakness of the hands also occurs in most people but not until after the age of 20. 
(Page 14)

It is usually the case with both hands and feet that there is some degree of sensory loss or numbness (cold feet are especially common due to poor circulation in the lower legs). Very rarely the numbness can be severe and lead to self-inflicted injuries without the person realising it. 
(Page 15)

Loss of reflex.
(Page 15)

More complex forms of CMT can cause other problems like deafness, visual impairment and breathing difficulties. (Vocal Chord Paralysis also)
(Page 15)

CMT can cause mild curvature of spine which can be front to back or side to side, scoliosis.

CMT TYPE 1: Electrical Signals are slow
CMT TYPE 2: Nerve Fibres Defective
CMT TYPE 3: Severe form of TYPE 1 also known as Dejerine-Sottas Disease.
CMT TYPE 4: Group of types normally restricted to ethnic groups
(above listed for information puposes only as I have no way of knowing if I DO have CMT, thought it LOOKS HIGHLY LIKELY, nor what type)

DIAGNOSIS: Blood tests for types 1a, 1b and X-linked. Others by physical examination (oh dear NHS) including tests of muscle function and sensory response (knee slow and heel non responsive). A nerve or muscle biopsy is used in some cases when the condition is mild.


Muscular Dystrophy
Multiple Sclerosis
Charcot’s Joint
Distal Spinal Muscular Atrophy (DSMA)
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

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