Austrailan CMT Preliminary Survey Results

[Guest guest]

Australian CMT Health Survey Preliminary Results. (Graphs and article at

http://e-bility.com/cmtaa/health.php

Firstly a great big thank you to all of you who have completed and

returned the survey forms. A the time of writing this we had

approximately 250 forms returned and 169 of these entered onto the

database. The rest are being entered as quickly as we can and we hope

that once the closing date passes in December we can get the rest of the

data entered and analysed before Easter. I the meantime here is a taster

of the results so far. These are a very early look at the data and in

the main analysis we will have a lot more etail. In this taster I have

also left out some of the trickier data on issues such as surgery and

alternative therapies. These will be tackled in due course.

Background:

We have had responses from more females (100) than males (69). For these

169 people, 113 are in long term relationships, with 20 separated/

divorced/widowed and only 31 of the adult respondents permanently

single. (The remainder were children.) Overall, this suggests that there

is a good degree of support for most of the respondents with CMT.

We also do not know how many of the single people live with parents or

other family, but it is likely to be several. The age range so far is

quite wide, ranging from seven to eighty-seven years. The average age of

our respondents is 51 years. The average age at the onset of symptoms

was 23 although in some cases it is much younger than this. On average

11 years passed between the onset of symptoms and the time when a

diagnosis of CMT was given (at an average of 34 years of age). Diagnosis

was an issue, as expected, with 56 (33%) reporting that their original

diagnosis was incorrect. Typical wrong diagnoses included polio (6)

muscular dystrophy (4) and cerebral palsy (3).

A surprising eighty-one respondents (48%) were not sure of the type of

CMT type they

have. Of those who were certain, 55 (62%) have CMT1A (the hypertrophic

type) , 15

(17%) have CMTX - (the sex linked type), 8 (9%) CMT2 (the axonal type),

3 (4%)

Dejerine-Sottas type, 7 (8%) reported having 'other' types. One hundred

and eighteen

people had undergone one of the several available genetic tests and 92

reported that the type of CMT they have had been confirmed by the

genetic testing.

Pregnancy:

For women of childbearing age, 25 women had been diagnosed with CMT

before their

first pregnancy and 15 had received genetic counselling. Interestingly,

of the 18 who

responded to the question regarding whether they would have liked to

have had some

genetic counselling, 6 said no, 5 said yes, and 7 were not sure.

Overall, respondents to the survey reported their experiences for 162

pregnancies. In only 32 (20%) was there was no change to the CMT, with

83 (51%) reporting that the CMT worsened a little, 27 (17%) that the CMT

was definitely worse, in 8 (5%) their CMT became much worse, and for 11

(7%) very much worse. The types of problems reported by the expectant

mums, were typically cramps and further weakening of the arms and legs.

Approximately two thirds of the people reporting the symptoms associated

with pregnancy described 'severe' cramps, and just under half reported

further weakening.

Other features associated with CMT:

Fifty four (32%) of our respondents mention scoliosis as a feature of

the CMT, although 22 of these were mild only, the rest spread were

evenly over the degrees of severity. Weakness in the hands is obviously

common, and only 22 (13%) had no weakness in the hands. Ninety-two (54%)

reported a 'little' or 'moderate' amount, and for 49 (29%) of our

respondents the weakness is severe. All bar one person reported some

tremor in the hands, and although only 12 people reported the tremor as

'severe', the proportion of CMT affected people with tremors is much

higher than is usually

supposed. All but one person also reported increased sensitivity to

cold- this was 'a

lot' or 'severe' in 55 (33%), and a similar picture is found in the legs

and feet and as might be expected it is usually more troublesome here.

One hundred and forty-seven people (87%) have weakness in their legs

/feet and this is perceived as being moderate to severe weakness in 138

(82%). As a result of the muscle imbalances associated with the weakness

21 (12.5%) had significantly flat feet, and 114 (67%) have significantly

high arched feet.

To assist with mobility, ten people use a wheel chair, although for some

of these it is only an occasional aid. Forty three (25%) use a frame or

a stick, 48 (28%) used in-shoe orthoses and 37 (22%) AFO type orthoses.

Around the home, 45 used aids to help in the kitchen and 21 used aids to

help with tasks such as dressing. The relationship between these aids

and age and time since diagnosis will be explored in the full analysis.

Balance is often reported as a problem associated with CMT.

Interestingly, the

proportion of people whose balance was unaffected by both walking and

standing still

was similar at 37 (22%), and for these people balance simply did not

appear to be an

issue. However in those whose balance was affected, standing still was

associated with

more severe problems than walking. More than half reported having to

bend slightly at the knees to preserve balance, and a significant 114

(two thirds) reported falling completely to the ground as a result of

CMT related balance problems.

Treatments:

People have tried such a variety of treatments that we are unable to

present all of the information here. In particular the number of

surgical and alternative treatments has caused us some problems and

these will take some sorting out. For the 'standard'

conservative treatments we now know that 67% of people with CMT have

tried

stretching exercises. They were generally considered easy to do and 26

(23%) people

reported that they were 'very helpful' or '100% effective'. On the other

hand, 11 others (10%) reported that stretching was useless. Forty-two

(25%) had tried daytime AFOs, and again they were considered easy to

use. This time three quarters of the users found them very helpful.

Using similar splints but at night was not seen as being quite so

favourable.

Seventeen (10%) had tried night splints and they were not reported as

being particularly difficult to use. However, 12 (70%) of these people

reported that they were ineffective or only minimally effective. Seventy

people had tried in-shoe orthoses, and these were easy to use and

effective in approximately two thirds of cases. Of the more aggressive

non-surgical treatments available, only 12 people had tried plaster

casts to stretch out the feet/legs. Generally, plaster casts were

considered more difficult to comply with, although half thought the

treatment was helpful.

Finally we had included the two less specific questionnaires (the FHSQ

and SF-36) to

allow some comparison with other groups. While this will be covered in

much more

detail in the future, even the initial findings are very significant.

To interpret the SF-36 scores you need to know that 100 is perfect for

all the domains, and the lower the score the 'worse-off' the

respondents. The specific meaning of the eight domains are a bit too

complex to explain in detail here but you should get and idea of what

they mean from the names. The most important point to notice is that all

the physical scores are lower than for the general population, but that

the mental health scores are fairly comparable. This suggests that the

typical person with CMT cannot help but be limited to some extent in the

physical aspects of their lives, but that, despite this, is very well

adjusted psychologically. This is a testament to the strength of

character we have encountered within the CMT community. These results

will be compared with a range of other chronic problems in the future

but are already providing some illumination about the effects of CMT on

the general health.

For the FHSQ the results are again quite illuminating. The results are

interpreted in the same way as the SF-36 results in that the higher the

score the better the health of the group. It is quite expected, given

the effect of CMT on the feet, that the results for this survey in the

CMT group are slightly lower than for the general

population. Foot pain is an issue, but the level of pain does not appear

to be hugely

disabling across the board, although the impact of the foot changes in

CMT will affect the reports of foot function in section two 'foot

function'. Shoe wear is clearly important, and some efforts to improve

access to well-fitting, comfortable footwear will be a priority. Once

the rest of the data are compiled, these results will be added to the

information above and we will be comparing the CMT results with results

from previous studies that have used the same questionnaires. This will

provide information vital for our attempts to get recognition of the

impact of CMT on the affected person.