I'm Hansel Vigor 

pediatrician and geneticist from the 

University of Iowa Iowa City Iowa,

I'm going to talk to you today about 

approaches to floppy babies 

and weak Children and genetic 

counseling.

Floppy infant floppy penis 

is a rather new world 

creation which 

replaced the Previous term.

A my zero Tony A congenital,

am I?

Oh Tony a congenital Oppenheim.

Yet floppy penis is just 

as poorly delineated as 

poorly defined as a maya 

Tonia.

Congenital was it has 

several meanings.

It means week infant.

It means high platonic infant 

or it means both weakness 

and hypo Tonia.

There is no need for me to define 

for you muscular weakness.

But what is the definition of hippo 

Tonia?

This is shown in the first slide.

Hippo Tonia is characterized by 

decreased re systems of the 

muscle to passive movements.

And I mean,

of the resting muscles.

If a baby cries and as you know,

a baby cries with all the four extremities,

you would not be able 

to test the muscle tone,

the baby has to be in the rest 

before you can measure the 

resistance of the muscle to passive 

movements,

to softness of the muslim.

If you pulpit the hype,

a tonic muscle,

it feels very soft and 

three hyper extensive 

bility of muslim.

Now this is not always easily 

distinguishable from hyper lex 

city of the joints.

Very often it is 

combined.

That means the hyper extensively of 

muscle and hyper laxity of joints.

Now,

what are the manifestations of 

hyper Tony?

Um we test hippo Tonia by 

the head drop phenomenon.

The child 

raised inadvertently on 

his shoulders.

In high platonic Children,

the head drops back clearly.

You can only make this test the head drop 

phenomenon after head control has been 

achieved.

That means,

after the first year of 

life,

the frog belly.

If the child is lying on his 

back,

the abdomen extends 

laterally over the two oracle wall.

The scar phenomenon,

If you bring the arm around the 

neck of the child,

the shoulder will come under the chin 

or even on the other side of the 

index.

The scar phenomenon lose shoulders,

rectal phenomenon gina,

record bottom etcetera.

These are some of the 

manifestations by which 

we can test hyper Tonia.

Now,

if I say it before,

that floppy penis can mean different 

things has different meanings.

There are two major 

category of hyper 

Tonia,

namely cerebral hippo 

Tonia,

also called super 

spinal hyper 

Tonia.

Non paralytic hyper Tonia,

super nuclear,

high petunia.

Here we have HIPPA Tonia,

but very often there is a discrepancy 

between decreased tone and 

fairly good muscle strength.

That means if you have a high platonic child 

in rest who,

when crying and struggling has pretty good 

resistance in his muscles,

you are likely to assume that this is a 

cerebral or super 

nuclear high petunia.

The reflexes in cerebral dependent 

reflexes that is in super nuclear 

hype.

A Tonia are positive,

active hyperactive or even 

exaggerated CPK for 

creating forceful kindness E.

M.

G.

For electro biography.

Our normal muscle biopsy is normal.

On the other hand,

there is a paralytic form of high petunia 

and a distal peripheral form 

here.

HIPPA Tonia and weakness go 

parallel.

You have muscle weakness and at the same 

time,

muscular hypothermia.

The reflexes may be decreased or 

absent.

CPK creating false for kindness,

may be high or normal.

E.

M.

G.

Is abnormal and the muscle biopsy is 

abnormal.

No,

I'm not going to talk to you 

about the paralytic form of hypo 

Tony because this has been discussed by other speakers 

before me,

but any lesion in the 

peripheral reflects it,

be it,

the different gamma aphorisms,

the anterior horn cells,

spinal muscular atrophy,

the peripheral neurons,

Charcot Marie tooth disease.

The neuromuscular synapses.

Myasthenia,

gravis,

or the muscle for myopathy may 

be affected uh in this 

uh paralytic 

form of hyper Tony.

Um as I say,

I'm not going to talk about this.

I would like to talk about 

some of the super nuclear 

or non paralytic 

hyper Tonia.

Let us remember that 

any cerebral palsy or 

non progressive 

encephalopathy is 

hypo tonic in early 

infancy take an extra peter middle 

form of several policy.

The child may be hyper tonic,

but the extra pyramidal hyper kinesis 

cannot be distinguished from the 

physiological mass movements in early 

infancy.

And it takes off often 

656 months until 

we can finally distinguish that,

for instance.

Important in currently truth,

there's a child with actress.

Kravis has developed connectors are not often.

It takes 56 months until we are 

able to make the distinction 

because of this physiologic 

mass movement.

In the first few months of life,

the cerebellum form of 

uh cerebral policy.

Well,

it takes about the year before a child becomes 

tactic before a child develops balance.

Therefore the ataxia and the 

disturbance of balance cannot be 

recognized before a child is at least 

one year old and therefore we 

can we cannot make a diagnosis of 

cerebral cerebellum 

uh cerebral policy before 

the age of one year.

But even the Kartik,

the cortical lesions remember that 

any spastic of not any,

but almost any uh 

spastic cerebral policy is in the 

beginning hype a tonic.

It takes weeks,

months or even years 

until spasticity they appeared.

And in some cases spasticity 

never occurs.

They remain high platonic 

or a tonic.

We have a generalized catatonia with 

soft muscle,

the tendon reflexes maybe 

elicited or even be exaggerated.

You may have an extensive planet response and the 

psycho motor development may or 

may not be delayed.

That is the so called a tonic die,

please.

Which in milder form is not easily 

distinguished from the so called essential 

hypo Tony.

Um No.

Let's make a few words 

about,

say a few words about the benign 

congenital or essential 

hypothermia.

Usually I discuss this 

at the end because this is really a 

diagnosis of exclusion.

But for the flow of this present discussion,

I bring the 

essential high petunia at this 

point and we'll discuss it now.

How are these Children come to you?

They are sent to you with the following 

complaints is emphatic ability 

or the child shows frequent fallings.

It has big legs,

it had loose joints,

it has a crooked gate.

There is some delay in motor development.

These are the complaints the parents expressed to 

you.

The doctors may send you the child under the 

diagnosis,

A maya Tonia or even muscular 

dystrophy.

Down syndrome,

et cetera.

What are the 

manifestations of 

benign,

congenital or essential hype?

A Tonia?

There is hipAA Tonia.

As we have seen in one of the previous lights.

The tendon reflexes are normal or 

depressed.

They are Pandelis.

That means if you check 

your knee jerk,

you will see that after you get the reflects it 

handles uh back and forth for a while.

Due to the to the decrease gamma 

responses.

There is often hyperlink city of the joints.

Some strength is okay with the child struggles.

It has pretty good strength.

Sometimes could dislikes term.

Oh and like liability.

Now the E.

M.

G.

Is normal.

The motor nerve conduction velocity is normal.

Creatine kindness is normal.

Muscle biopsy is normal.

Sometimes you find small muscle 

fibers and course in Belgium 

some years ago has shown that there is a 

defective arab authorization of the 

intra muscular nerve endings.

The genetics,

many cases are sporadic.

Others are familiar.

Even families with autism,

alert,

dominant inheritance of this condition 

has been reported.

The prognosis is usually good.

If I see a child,

I have the feeling that is an 

essential benign congenital hypo 

Tonia,

I tell the parents well let's wait,

let's see if my diagnosis correct,

then The hyper Tony will 

disappear by the age at least 

10 years at the latest.

But If by 10 years the di 

the opportunity is still present.

Then you have to think of various condition as 

mentioned here and also of some of 

the benign congenital myopathy.

Now just recently we had a five years 

old boy who came and 

we felt that this could be an essential 

hypothermia.

However,

the boy had a tendency to walk on his 

tiptoes.

There was already slight achillestendon contractor which 

was a little bit more than essential 

hypothermia.

Now we decided uh the 

orthopedic surgeon decided to do a tendon lengthening 

operation and we decided to study the most 

muscle.

And lo and behold what you see here 

is really a type 

two fiber positive.

The dark fibers that's 80 P.

A steam.

The dark fibers are Type two fibers.

The clear fibers are The type one 

fibers.

There is a definite Type one Fiber 

predominance continue to fiber type 

disproportion or a positive of Type 

two fibers.

You remember that this morning dr Engel was 

mentioning um 

the positivity of Type two 

fibers as one possible 

cause of the 

essential hypothermia.

We really don't know what essential hypertension.

It it may be a 

multitude of conditions.

But let's keep in mind that a congenital 

myopathy,

a so called benign congenital myopathy 

may present under the 

clinical picture,

may present the features of 

essential hypothermia.

Now let's make a let's look at another slide.

This girl here,

I saw her for the first 

time at the age of about 10 

months at that time she was definitely 

high platonic,

she was somebody late in motor development 

which I thought might be due to her 

hypothermia.

I saw her again at 3.5 years.

He or she is.

She's still hippo Tony as you can see from this 

curb back.

That's a sign of hypothermia at 

this time.

She was definitely mentally retarded.

Let's remember that mental 

retardation in the first year of 

life may present as hipaa 

Tonia.

And you have to watch your child very 

carefully compare motor 

delay in motor development versus 

intellectual alertness.

To make the differential diagnosis.

Remember,

for instance,

the cases of Whitney Kaufman's disease,

which may be completely paralyzed.

But you remember that a lord 

looked.

These Children have to do.

That's a typical distinction 

between mental alertness and 

muscular hypothermia.

Watch for your mentally retarded Children.

Be careful,

leave a little door opened when you talk to the 

parents.

We,

by the way,

my students are never allowed to make a diagnosis.

Mental retardation before a child is three years old 

because you may be mistaken on the other side 

as well.

But keep this in mind.

No,

if I mentioned before in the slides 

where I talked about cerebral hypo 

Tonia,

that there are preserved reflexes and 

there is a discrepancy between 

decreased muscle tone and 

good muscle strength.

There are some exceptions to the rules.

These exceptions are one the 

cerebrally depressed newborn depressed 

because of prenatal disease.

Because of perinatal trauma,

autism disease et cetera.

I'm not going to talk about that.

The cerebral hippo to renal 

syndrome,

or Zellweger syndrome,

shows severe catatonia,

which you see here two Children with cerebral 

syndrome and you see this enormous hi 

Patagonia,

this Daytona of the so called 

cerebro hepatic or renal or hepatic renal 

cerebral syndrome.

Zellweger syndrome the 

the symptoms in brief our 

Daytona a reflexive but hip 

atomically with a tendency to victories in the 

second month Molina due to hyper 

pro trump anemia.

No psycho motor development at all.

Many Children have glaucoma cataract.

Others have congenital 

um convulsions or a medium 

cortes.

Congenital stippled epiphanies are quite 

frequent.

I'm not going to talk about this syndrome is very 

much more because most of these 

Children die with him the first 

few months of life I 

would like however,

to talk about two other exceptions to the 

rule where you have severe 

neonatal and infantile hypo 

Tonia,

namely the Prader Willi syndrome and the 

early onset Maya Tonia tropical 

or Maya tonic dystrophy.

First,

Prader Willi syndrome.

The Prader Willi syndrome,

also called hype A Tonia.

Hyper MENSA 

hypogonadism Obesity 

syndrome has two faces,

namely a first phase in 

the newborn.

In the first few months of life where the child is 

extremely a tonic reflexes,

there is no sucking reflects no 

swelling or flex.

I had Children whom I had to feed 

by nasal gastric tube for 

several months before they picked up.

There's also deficient term regulation.

There is small,

a small hand and small feet.

And the diagnosis in this early 

phase is very difficult,

particularly girls in boys,

it is somewhat easier because boys 

have an undescended testicle 

and they have behind the mini peanuts.

Only a very 

hyper plastics growth not more than a 

little bit corrugated skin.

If you have this with the symptoms shown 

in the previous slide,

then you may be pretty 

sure that this is a 

village in girls.

You have to wait until we enter the second 

phase,

namely,

after some months,

these Children wake up,

become more alert.

They still are hyper tonic,

but then they develop a peculiar 

hyper feature.

They eat and eat and eat and eat.

Some of them have a painful hunger 

feeling which takes them constantly 

and they have to eat constantly.

They pill for the the the the 

the garbage can they eat 

the food of the dock?

Because if if no food for them is 

available.

Others,

there may be two types of prey.

The really others they eat only if food 

is before them and if it is taken,

I really don't eat,

but consequently they increase 

invade.

They are mentally retarded and have a slurred 

speech.

Now,

in consequence to this uh to this 

hyper feature,

to this enormous eating,

the weight increases.

See here this is the median line 

here.

These are always curve here here and here and you 

see how in the later month of 

the first year the weight goes up in mind while 

the height remains in all Cases 

below the 50 time.

Consequently these Children develop an 

enormous obesity.

This is even a rather benign cases.

We have seen much more 

severe obesity.

What can we do for it?

That is not within the the discussion 

today.

But let me just say that we have in 

some cases done a gastric 

bypass operation in that the product 

the proximal part of the 

stomach is futures to the to 

the last part of the duodenum.

More recently we have started to make a 

narrowing operation of the of the 

stomach as you see here.

So the child can only eat until this part is 

full.

And if this is full then he has to bomb attack like the 

old roman state.

Only the did the vomiting not by 

a gastric narrowing operation but 

by uh teaching their their 

throat with a 

feather.

But in principle that's not a very humane treatment.

That's the only treatment we have to 

offer as to muscle.

Sometimes you find a type 

two fiber atrophy probably due 

to atrophy due to disuse.

And here you see an electron microgram of a 

Prader Willi here you see rather 

normal Miomir normal maya.

But here you see a tremendous disarray.

Still some muscle fibers around,

but a lot of debris in between.

That's the muscle in villy breeder 

syndrome.

Now let's go to something else.

This little boy I saw about 

20 years ago.

He was severely hyper 

tonic.

He had a delayed motor 

development at this when he was here.

He was about 1 1/2 years old.

His mother indicated that the feeding during the 

first few months of life had been 

extremely difficult,

but she did not have to resort to nasal 

gastric feeding.

I examined this child,

the neurologist examined the child.

Orthopedist examined the child.

We couldn't come up with a clear cut,

diagnosed,

there was severe hyper Tony,

you see a flat faced with a little bit triangle 

or shark mouth indicating official 

depleted.

The reflexes were obtainable.

We saw some special form of cerebral policy but 

we really,

we were not sure.

Well I lost sight of the child.

Few years later I found him 

with his mother in the department of neurology.

He had now typical 

signs of maya tonic dystrophy.

The lady contractual 

percussion,

my antonia.

His mother has a monotonic dystrophy.

His sister has my autonomic dystrophy 

as well.

The boy is now 20 years old.

You see here this typical swan 

leg of the maya tonic dystrophy.

You see the flat face.

You see he has a facial diaper teacher,

he has,

his speech is hardly 

understandable.

Even his mother has difficulties to understand 

him and he is mentally retarded and still 

has typical signs of maya tonic 

dystrophy at the time when I saw this 

baby for the first time,

I didn't know what it was and nobody news 

since then we know better because 

this condition has since then been 

described as 

congenital facial depledge A by parker.

In 1963 BRzezinski gave it the 

name Maya tonic.

This embryo play asia waters.

We speak of early onset diatonic 

dystrophy,

my atomic district in the neonatal 

congenital Destro fia maionica.

These are all synonyms for 

it.

Come 

for a condition which is 

characterized by 

decreased fetal movements.

These mothers indicate that they have much 

less fetal movement than they had with other babies.

Often there is hydrangeas 

in emphysema severe plutonium 

reflexes may be absent or 

decreased.

The sucking reflects the swallowing reflex is 

decreased or absent for a considerable 

period of time.

There is facial dip legia open their 

club feet,

there is a relax at your diaphragm.

The diaphragm Recently we had a 

child who was operated 

for a right side 

diaphragmatic hernia.

And as I saw the child about a few weeks later and I 

saw the mother,

I found out that it was one of these early on.

My attorney.

Dystrophy is to develop the psycho 

motor development is definitely dilated,

It's mental retardation and the speech is 

slurred,

no signs of neo Tonia in 

early infancy.

This appears only after several months or 

several years.

And interestingly enough,

the mother is always the affected 

person,

the one who gave the mutant gene to the child.

There are in England.

About 100 cases have been reported 

recently,

I think in the february issue of the archive,

diseases of childhood and all had an 

effective matter.

Now.

These are three of the eight families we have presently 

understanding and see in all of them the 

mother was the affected party.

The father,

if the father is affected with my 

alternate dystrophy gives the gene to his 

offspring.

The mutant gene that is the child will 

not have early onset.

My alternatives surface.

In other words,

we have here a most interesting 

combination and we can summarize the problem.

Like this early onset maya 

Tonia,

a trophic occurs in Children 

who inherit the mutant gene 

from their mother.

Early onset.

My atomic dystrophy does not occur in 

Children who inherit a wild type 

gene,

the normal gene from their mother and early my 

attorney dystrophy does not occur in Children 

who inherit either the 

newton or the wild type gene from 

their father.

In other words,

then there seems,

does it seems that the maya 

tonic atrophy of the mother 

creates during gestation and 

environment,

which in combination with the 

Maya tonic dystrophy gene of the fetus 

causes the manifestations of early 

onset maya tonic maya Tonia,

a tropical diatonic dystrophy.

In other words,

we have here a peculiar 

combination of nature nurture,

which is terribly interesting.

We don't know what the environmental sectors 

are.

There is still time for research to find this out.

Okay,

now,

let's see where we are.

Yeah.

Yeah.

Now this child here 

came At the age 

of five months with diarrhea to the hospital.

The attending physician called me and said,

I believe I have a child with watnick Hoffman's disease.

Come and see the child.

I looked at the child.

It was obviously very high 

park tonic,

but I wasn't sure about 

what Nick Hoffman's disease.

Now I was lucky enough to meet the mother 

at the bedside.

This is the mother and she has a 

typical picture of 

Shark Omari 2s or 

peroneal muscular atrophy.

No,

the point I want to make is 

while most of the textbooks 

say that Shark 

Omari II's begins in the 

second or 3rd decade.

We have quite a number of 

Children where the 

disease manifests as 

floppy penis in infancy as in this child 

here we studied in the family and you see here the 

pedigree,

all the black signs here 

are individuals affected with 

my autonomic dystrophy.

Those who have a little cross here have been 

examined by me personally,

these three Children.

This is our program here.

This is his mother.

She has since then a second child who is also hypothalamic 

and who has also 

delayed a motor 

nerve conduction velocity.

These three Children here I visited them 

one sunday in Illinois.

They all okay and 

presented the 

manifestations of infantile 

sloppiness of floppy penis during infancy.

Their motor nerve conduction.

When I saw them,

they showed the typical picture of Charcot Marie tooth.

I sent them to fill the dutch 

in ST louis Missouri who was kind 

enough to study their motor nerve conduction 

velocity and the diagnosis charco 

morita's was confirmed 

death.

Let's keep in mind if 

you have a floppy infant,

it may pay to 

order a motor nerve conduction velocity.

You may find a shark of molecules disease.

And on the other hand,

if you have a family with Charcot 

Marie tooth disease,

watch out for 

uh,

for uh floppy infants.

This pedigree here shows you a 

typical auto,

so normal dominant inheritance,

which is typical for 

a Charcot Marie 

tooth disease.

And this brings me to the second 

part of this um 

presentation,

namely genetic counseling.

I could speak hours and hours about genetic 

counseling in neuromuscular disease.

I don't do that and I limit 

myself to present to 

you some new discoveries 

in the realm of the most 

frequent of all neuromuscular 

diseases,

namely Duchenne muscular dystrophy.

Duchenne muscular dystrophy in my muscle clinic,

which really presents a cross section through the 

state of Iowa.

And it's not a selected material 

accounts for 70 of 

all our uh 

neuromuscular cases.

Now,

let's look at this situation here.

Here we have a 

pedigree of a 

family restitution,

muscular dystrophy.

All the males which are 

squares and which are in black 

are or have been affected.

Restitution muscular dystrophy.

The female circles with three dots 

are geologically speaking,

two carriers.

And that's why they have three dots.

You see here,

for instance,

the mother,

This mother here has a brother who has muscular 

dystrophy and has one son.

She has seven Children,

which of course is five.

Too many in view of the 

overcrowding of spaceship earth.

Now,

that's beside the Honoraria might give this free of 

charge.

This advice.

Now he came this 

and she came to the Master Clinic with that 

child here and I examined the child and I had a young 

resident with me and after the mother have lest she 

said,

well,

isn't mrs d not pregnant?

Well,

I didn't look at her belly.

I looked at the child.

So I ran after her and I found her in the 

corridor.

I said mrs D are you pregnant?

She says,

yes I am.

And I don't want to now.

What does it mean for this lady who 

is geologically speaking,

a proven true carrier of tradition,

magical.

This refugee.

It means 

if her offspring,

if the fetus is a female has only 

has two x chromosomes,

one of the excess may Carry the mutant gene,

there's a chance of 5050 for that and 

this may be a carrier pregnancy could go on.

If however,

the fetus has Only one 

x chromosome,

it's probably a male.

Then There is a 5050 chance that 

he may have been inherited the 

mutant gene from his mother and May 

develop Duchenne muscular dystrophy.

So what we did,

we sent her immediately to our obstetrician who didn't 

understand thesis.

It was it happened to be a sex 

chroma teen negative vetoes,

which means he had a 5050 chance 

of having um of 

developing Duchenne muscular dystrophy.

We had to communicate this to the mother and give 

her the chances of uh the 

decision,

whether she wants to take the risk and carry 

on or she wants to have a termination 

of the pregnancy.

You genetically speaking,

you genetically speaking this,

uh this uh would be a 

termination of pregnancy would 

be justified.

However,

we never do this without.

I mean,

the decision is the parents,

we can only give them the facts 

empty.

Have to take the decision what they want to 

do by no means.

Is it allowed to create a religious conflict for 

them?

Now,

let's just quickly look at this schematic 

drawing.

Duchenne muscular dystrophy can be inherited 

through generations.

And you see here the grandmother is a carrier,

the mother is a carrier and the child has 

ambition,

muscular dystrophy.

It can,

however,

be that a point mutation took 

place when the mother was created 

and she would then be a carrier.

Or it can be that the 

point mutation took place when the 

when the little boy was created.

In about 2/3 of the cases of 

Duchenne Muscular dystrophy.

This is the mechanism it is inherited in 

about 1/3.

It is either a mutation in the mother or a 

mutation in the child.

No,

how can we this 

side whether a moderate carrier?

See this model here.

She may have A child with multiple dystrophy,

his appointment Asian,

but she can have other Children who will be perfectly normal.

This model here has a chance for 

every male of spring of 5050 of 

having another affected boy.

And the same is true for this mother here.

Well,

how can we decide 

whether a mother is a carrier or 

not.

Now.

Several various tests have 

been given To 

determine the carrier stage of the 

mother.

I mentioned only two.

Only two are really of practical importance 

namely Sarah correction,

creatine for smokiness determination 

in the modern.

The ask for three 

Samples on three different days.

If the mean of trees,

these three samples is above normal.

In one of these ladies,

we would consider her as a 

carrier of the muscular 

dystrophy gee.

Of course we have to be sure that we 

do not overlook unspecific 

elevations of the CPK for instance,

cardiomyopathy,

Thyroid disorder,

excessive exercise.

If this mother runs 10 miles and she's 

not used to it,

Then her CPK will be elevated for a 

few days.

If she then runs everyday 10 miles and after 

six weeks she has achieved the respective training.

Her CPK would no longer be elevated.

We have also,

if the CPK is elevated to think of families 

with malignant hypothermia as it was mentioned this 

morning or of muscular traumatised.

Um,

the other day,

I had a lady who had a high 

CPK,

I was worried about it and it came out that she had 

a big hematoma on her leg.

She has fallen from her bicycle and at that time a duma 

which was responsible for her 

high CPK.

No,

in other words,

if the sea became 

of such a mother or for that reason,

um,

of the sister of 

a dystrophy,

Duchenne dystrophy patient is 

elevated.

We are sure it is a carrier.

However,

only 60 

of the truth of the geologically proven 

carriers Have an elevated CPK 

means CPK three determination.

40 percent have not.

That means therefore,

if we have,

for instance,

a sister of this little 

boy,

uh,

He she would have a 5050 

chance of inheriting mutant gene from the 

mother.

That would mean um,

50 Of,

of 40 of the 40 where the 

CPK may be normal.

In spite of carrier stage,

she Would still have a 20 

percent chance of being a carrier 

of the mutant gene.

Of course,

that is the most unsatisfactory 

state of affair.

For that reason we have in 

our laboratory developed an other 

test.

It consists in the study 

of in vitro 

ribosomes,

all protein synthesis of a muscle 

explained.

In other words,

if a doctor of a proven carrier,

for instance,

has a three normalcy 

pks,

She still has a 20 risk of being a carrier.

We would take a muscle biopsy of her.

Would isolate from this muscle 

biopsy immediately after cooling it 

down to freezing point 

would immediately 

isolate the the 

ribosomes into various 

fractions the monem eric the police sonic,

the heavy police,

uh police rooms.

And then by adding 

attacked amino acids,

would study the ribosomes all 

protein sentences.

In vitro,

This test has proven to be 

98 percent reliable.

We have so far checked about over 

100 to Geologically proven 

carriers and in 98 of 

them was the test.

Reliably elevated.

So we consider this as reliable 

enough to modify our genetic 

counseling accordingly.

Now transfer technical purposes.

Many of the M.

D.

A.

Muscular dystrophy association of America chapters.

Pay the trip.

Empty expenses of the test,

the test as we do it presently And we are trying to 

simplify $250.

We like to have the lady to come 

up to do the biopsy in in our 

hospital.

However,

if this should not be feasible,

if we could not ship the lady the lady to 

us,

then you can ask for 

a container from us for like 

liquid nitrogen.

We would send you such a container and you would 

meal the sample to us with 

special freed by 

notifying us.

However we prefer it the 

first day.

So in 

quintessence and if the rivals Roma protein synthesis 

is normal,

we assume that this is not a carrier and we 

advise her accordingly.

If the rivals Roma protein sentences in vitro is 

abnormal,

she is a career.

We are prone sooner or 

later to make an error on the basis of 

the lion principle.

But I believe in this particular 

situation.

The exception due to the lion 

principles would be 

exceedingly rare.

Now what are we doing if a 

mother is a carrier?

What are the possibilities for her 

with respect to her reproductive activity?

One she could have a cuba ligation 

and adopt Children.

That would be one solution.

The second solution is that she takes the chance.

That is the least good solution.

And the third solution would be if there are 

no religious or ethical arguments 

against the possible termination of 

pregnancy.

Prenatal sex determination by 

Amniocentesis is done during the 

14th to 16 weeks of 

pregnancy would be indicated.

No.

You may ask the question.

Well now you have to still 

if It is a boy,

if the sex determination reveals that it's a 

boy,

there's still a 50 chance that the boy could 

be normal.

Two.

Well,

next question then,

are we able to 

to see whether the boy is affected or 

not?

Whether he has,

he will develop muscat disproportionate.

The answer is no.

Not yet.

We are doing studies,

we are trying to determine 

the number one the difficult 

culture the fetal cells in the amniotic fluid 

and see whether we can get any rivals Roma protein.

This is sentences out of that that's still in the 

experimental stage.

Likewise,

in the experimental stage is G.

P.

K.

Determination in the fetal blood.

But here I have to say there is probably 

something in it.

I don't know how much.

But let me tell you that we have 

developed with Anthony in Chicago,

a method where we can determine 

CPK in one drop of 

dried blood.

So we could puncture the and get a drop 

of the fetal that and could see whether cPK is 

elevated.

That is still under just the beginning 

to study.

But that's another thing 

with this so called test.

And let me tell you first test,

we do.

The test is the so called firefly 

test.

Now,

every student biochemistry knows the 

firefly test.

I mean he does that what Anthony in 

Chicago has done.

He has modified a test 

that he can do it in a drop of dried blood.

Now what is the test?

You know that CPK 

activates a.

D.

P.

To 80 P.

And 80 P activates the 

luciferase luciferians system,

which is An extract from the tail of the 

firefly and gives a 

light reaction.

Now the more CPK,

the more 80p,

the more 80 p.

The more light.

And we can measure by a simple light 

measurement.

That is the semi quantitative method.

We can express the light 

reaction in times normal.

And it has shown that this test,

which can be done in one drop of 

dried blood,

not out of left,

not out of left in one drop of my blood.

And it has shown a pretty nice 

correlation between our routine C.

P.

K.

C,

for instance is our routine CPK is between 10,000 

and 12,000.

The firefly test is 9200 times 

normal.

If it is 3900 the 

firefly is 40 if it is within 

normal limits,