Last change: 04/29/2001

Severely adducted thumb

All fingers - including the thumbs look as anybody else´s fingers. Only the thumb is bent inwards towards the palm. Possibly the thumbs´ shape seems a little different (i.e. twisted) after a certain period of time, maybe due to a wrong way of grasping. (That is why an early therapy is the very best!)

Sometimes the thumbs of individuals afflicted by the MASA syndrome are - at least in early infancy/before therapy starts - adducted a lot.

When an afflicted baby´s hand is closed, the thumbs are hidden by the other fingers. The babies make a fist. This is why it is possible that adducted thumbs are sometimes, as in our son´s case, not diagnosed instantly after birth.

Healthy babies make a fist as well, but they are at least sometimes able to put the thumb to the outside of the fist. And when they open their hands (or somebody else does this) healthy babies normally open the whole hand (including the thumb) whereas babies who have the MASA syndrome are not able to move their thumbs out.

An early physiotherapy and maybe splints (during the nights) can have a positive effect on the adduction of the thumbs. After some months Andy was able to partly move his thumbs away from the palms of his hands.

In some cases the thumbs can be treated easily, in others not, depending on the fact whether and since when the individual received a therapy - and also on the severity of the adduction.

Meanwhile, our Andy can move his left thumb, for example, quite well out of his hand, whereas his right thumb remains in a more adducted position.

It must be stated that not every afflicted individual has adducted thumbs. Especially the rarely expressing females can have this symptom or not.

The afflicted individual can have difficulties in learning to speak, write, read and/or understanding speech and/or signs properly.

We noticed that our son Andy seemed to "forget" words soon after having learned them.

His articulation (speaking understandable) is not the best due to a hypotone mouth region but he never seems to give up trying.

Meanwhile he speaks a couple of words, for example "Baum" (tree), "da is..." (= da ist (there is)), "Ball" (ball) and others. We are very proud of him as he always keeps on trying.
 
 

A possible shuffling gait may be due to a rigidity in mainly one leg (spastic paraplegia).

The rigidity may be the result of an impaired control of the voluntary movements of the legs.

Our son Andy learned walking at 22 months of age. His gait is not (yet?) shuffling but Andy tosses sidewards when he walks. But it has already become better.

In any case early physiotherapy can improve the situation a lot!
 
 

An individual who has the MASA syndrome may be delayed in mental development. The mental potential reached by afflicted individuals can differ a lot because the retardation can be mild to severe.

Our son Andy seems to understand a lot of what we say or what is happening around him.

Most physicians hesitate to tell us what the future will bring as the MASA syndrome is such a rare disease with symptoms that vary a lot.

But at the moment he seems to be doing quite well.

I think that his retardation is more or less mild as he seems to be quite "awake".

A specialist said that Andy had an estimated intelligence of 80% but that it was only a result for the moment.

Well, as every parent does, I simply hope the best!

And I believe that the main thing is that Andy understands social things so well which he indeed does.

Who cares whether he will be good at reading or maths in the future as long as he is such a pleasant, friendly and lovely boy! -
I surely do not!
 
 
 

This were the main symptoms as far as they part of the acronym MASA.

Now here are the most important other main symptoms:
 
 

Agenesis of the Corpus callosum means that the "bridge" of neuronal fibres connecting the two hemispheres of the brain is more or less missing.

The child can either have a hypoplasia of the Corpus callosum (i. e. the Corpus callosum has not developed completely) or an aplasia (i. e. the Corpus callosum has not developed at all). Most physicians, however, only talk about an agenesis of the Corpus callosum.

Agenesis of the Corpus callosum is a symptom that expresses in various diseases with brain abnormalities. Although many physicians are alarmed when you tell them that your child suffers from agenesis of the Corpus callosum the latter is not in any case a severe symptom: There are people suffering from agenesis of the Corpus callosum and are severely disabled, and others where the agenesis of the Corpus callosum obviously does not cause any symptoms and where it is revealed only accidently, e. g. after an accident when an X-ray image is made.

In most cases afflicted individuals express impaired control of voluntary movements as well as physical and mental delays in development. The symptoms may be mild to severe.

With an agenesis of the Corpus callosum the two hemispheres of the brain cannot work together in a coordinated way. Thus the most symptoms show where a lot of cooperation between "left" and "right" is necessary, for example when riding a bicycle.

Our son Andy suffers from agenesis of the Corpus callosum as well. He tosses a bit to either side when walking and falls down more often than healthy children.

Some children with agenesis of the Corpus callosum cannot draw diagonal lines. So you can see the results of the diminished or missing of coordinated efforts of the hemispheres here as well.
 
 

Children who have the MASA (CRASH) syndrome can have a hypotonia of the muscles. This means that the muscles are not strong enough (weak). E. g. in our son Andy mainly the trunk is hypotone but partly the legs as well.

Moreover or instead a child can express a hypertonia of the muscles, i. e. a rigidity of them. In our Andy it is even the case that the feet and knees are too rigid while his legs are more hypotone in the other regions. A rigidity of the muscles can increase to become a spasticity.

Our son suffers from attacks of vomitting as well. I do not think that this symptom is only due to Andy´s delicate constitution concerning colds but is also due to the hypotonia. However this is my personal opinion.
 
 

There may be many other symptoms as, for example, sceletal abnormalities (abnormal curvature of the spine, flat feet, toe abnormalities,...), squinting, a delicate constitution concerning colds, Caries, more or less short stature etc. But the symptoms are so different as far as their form and their severity are concerned that the mentioned ones shall be enough.
 
 

11/98    Feeding problems (1,5 months)
            Adducted thumbs (partly still present)
            Upper part of the outer ear not fully rounded (3-4 weeks)
            "Weak" mouth region/tongue (partly still present)

12/98    "Weak" legs, few movements (partly still present)

01/99    Beginning cerebral palsy?? (Not clearly confirmed)
            Physical and mental retardation (still present)
            Hyperexcitability (still big sleeping problems)
            Hydrocephalus (internally) (duration unknown / there has never been an operation / only few checkups because of
            mild symptoms)

02/99    MASA syndrome?? (Remains, of course)
            Agenesis of the Corpus callosum (remains)
            Beginning cerebral palsy?? (See above)
            Mild lacking of carnitine (no new checkup yet in Andy´s case)

04/99    No cerebral palsy  confirmed

05/99    DD: X-related hydrocephalus (not confirmed)
            DD: Prader-Willy syndrome (not confirmed)

06/99    Definitely no Prader-Willy syndrome (see above)
            Mutation found on the L1CAM gene which is responsible for the neuronal cell adhesion during embryonic/fetal
            development
            MASA syndrome confirmed (remains)
            (MASA = part of the CRASH group of symptoms)
            No symptoms of Epilepsy confirmed (although Andy "shivered" a lot)
            Sleeping difficulties (Andy still wakes up several times during the night)
            Primitive tongue movements (partly still present)
            Vomitting (still present / only slightly better)

12/99    About 85 % of mental abilities (development still unclear, but Andy seems to understand a lot)
            Adducted thumbs probably due to short ligaments/capsules - or a tendon? (Different specialists -> different opinions! /
            symptom partly remains)

03/00    Excessive salivation (still remaining)

08/00    About five months retarded (further development unclear)
            About 80 % of mental abilities (further development unclear, but as Andy seems rather "awake" we hope the best!)

10/00    Friendly child (hopefully remains ("ggg"))
            Elbows only a little less movable (duration unclear)
            Mild contraction of the hips (duration unclear)
            Shortened muscles in the knees (a little contracted / will hopefully improve thanks to physiotherapy and walking)
            Feet: Some specialists say he has flat feet / one said his feet are alright

02/00    Delay in mental development confirmed (for example too little "exploration")
            Sleeping problems (Andy wakes up 3 to 6 times a night (in about 6 hours))
            Vomitting (see above)

More details in Andy's (hi)story.
 

As you cannot treat the MASA (CRASH) syndrome itself  you must try to treat the symptoms as well as possible.

It is very important to begin with the therapy as soon as possible, i. e. as soon as you know that your infant/child has special needs. It can be the case that you are still searching for the cause of the disease while therapies should already begin. Maybe it is still not completely clear to you whether there is something wrong with your child or whether everything is alright so far. In this case you should not wait until you have got all answers for it can take a long time until you know what is wrong. Possibly many questions remain unanswered. Then it is important for your child that you accept that and see to it that your child gets his/her therapy as soon as possible. Eventually, it cannot be bad for your child to have received, for example, physiotherapy at an early stage or possibly without the necessity for it. Simply make sure to choose the therapy your child can accept as well as possible.

Sometimes it can be difficult to get tipps for a first therapy during the first weeks and months. Therefore I have given some examples of the "exercises" that helped Andy best in "Andy´s (hi)story".

The principle on which these exercises are based is to play with your child while concentrating on the things he/she has already learned and on one or two things she/he should learn next. Do not overdo it! If your child seems to be sleeping all the time you can wake her/him up a couple of times a day in order to "train" him/her a little, but if he/she is very tired let her/him sleep. Try to find the right moments for the exercises and for sleeping.
You should ask your child´s physiotherapist what you can do but never give up thinking yourself!

Apart from the information already given you should know that it is not always the best idea to give your child as many therapies as possible because by doing so you do not give your child the chance to intensify what he/she has learned in every therapy.

In Andy´s case the therapies that are most common here in Germany seemed to be enough. I do not think that more would have been better as Andy´s development was slowly but kept on continuing. Andy has been receiving two main therapies: One that based on the concept of "Bobath" (the Bobaths are a physician and his wife, a physiotherapist) and one which based on the concept of "Vojta" (Vojta is a physician as well). As Andy did not really accept the Vojta therapy we took him there for almost a year. In addition to that we took him to the Bobath therapy twice a week. We left out some Bobath appointments  while trying whether therapy in a group of children was good for him (a physiotherapist played with them and let them play together) but as we realized that Andy did most of those things at home together with his brothers and sister as well and that his physical development seemed to slow down we decided to leave that and instead take him to Bobath therapy more often again. Of course this decision was based on our personal opinion. So always look what is best for your child and decide for yourself after asking the physician or physiotherapist!
Every child is different - and has different needs!

Some parents prefer hippo therapy, dolphin therapy or others. Check your (or your child´s) opportunities, ask physicians and physiotherapists and make the best-possible decision for your child.

Some physiotherapists are specialists for more than one therapy. Thus they can combine some parts of other therapies with the one your child usually gets. Our son´s physiotherapist, for example, applied mouth massage therapy based on the concept of Castillo Morales (he is also a doctor, as far as I know) while Andy had his Bobath appointments. This was great as we did not have to make further appointments and see new physiotherapists again!

It would be great if a therapy plan could be developed by all of your child´s specialists. If this is not possible make a kind of therapy plan by yourself by asking all specialists what they think should be done and bring them together as often as possible.

Good luck and best wishes!!!