CHARCOT-MARIE TOOTH DISEASE
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.
It is possible to carry the genetic disorder that causes CMT yet display no symptoms.
10 – 20 per cent of all affected individuals have no symptoms whatsoever.
CMT causes sudden increase in growth at puberty. (affected me and noticed by my father)
People with CMT have difficulty in obtaining comfortable shoes. (Well what can I say that I have not?!)
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.
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.
Weakness of the hands also occurs in most people but not until after the age of 20.
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.
Loss of reflex.
More complex forms of CMT can cause other problems like deafness, visual impairment and breathing difficulties. (Vocal Chord Paralysis also)
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.
SIMILAR CONDITIONS TO CMT
Distal Spinal Muscular Atrophy (DSMA)
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)