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Good Afternoon all,

I was wondering whether anyone could be of some assistance to me. I am a first year pod and have come across quite a challenging patient...

Patient presented with an indentified extra No 9 chromosome. This condition is known as Trisomy 9p. It is a genetic condition in puberty similar to dwarfism.

Patient has noticed changes in nails, skin, and walking with pain.

On examination the patient presented with:
Derm:
OX nails
HK on lateral border of B feet
Fissure on B heels.

BMX:
NWB - FF Varus Both have RF Varus
WB (in gait) FF slap and intoeing.
Pes Planus

Intoeing suggests upper muscle weakness?

No obvious weakness of lower limb muscles
Slight strength in abductors of both feet

Have refered onto a physio for muscle strengthening but are unsure as to whether to look into prefabricated orthoses while increasing muscle strength?

Is there anything else I should be looking at or doing in order to prevent degeneration of muscle bulk, and bone formation?

Thanks!

 

Hi,

This is a little more interesting and challenging than the usual student questions we get asked on here - a welcome change - well done for posting:).

More info needed.
Are we dealing with a child or adult here?

It's always useful to put both the age and sex of the patient when asking this type of question.

 

Reading Davids post and re-reading yours something popped up. I post-up a few studies on monday when on a computer but studies show that using orthotic device can increase the EMG activity in muscles, what one biomex guru (Nigg) claims is that orthotics increase muscle activity not decrease it.

So an orthotic may help you in this case.

I'll post so references on monday for you to look at.

 

Thank you for your replies!

Patient Age:13
Gender: Female



Thanks M. Weber, I look forward to your posts so I can further my knowledge with the suggested readings.

 

Hi,

Thanks for the info.
Both are important. As she matures you can expect a greater knee valgus angle with your patient than with a male, due to a wider pelvis. This may affect your prescribing rationale.
In a developing body you will be checking and re-prescribing devices more often than in an adult - you may want to be a little more aggressive in your choice of orthoses too.

On balance I think you are right to consider prefabs now.

 

Does anyone know whether that condition will have continued muscle degeneration?

 

Some reading for you. I´m not sure how much it helps as I know nothing about Trisomy 9. Goodluck

http://www.gaitposture.com/article/S0966-6362(05)00060-3/abstract

http://www.rvc.ac.uk/SML/People/documents/JW35.pdf

http://www.gaitposture.com/article/S0966-6362(08)00261-0/abstract