Case of the Week 21-6-06: What people said...

Hi all,
only had a very quick look at the info, but my comments are:-

the increase in forward trunk lean may be to allow a faster walking speed - in order to maintain momentum to keep up with peers? (not uncommon at her age), or may be a consequence of increased walking speed, to maintain balance.

The assessor noted "bouts of dystonic posturing & muscle spasms involving brief loss of muscle control
triggered by tensing muscles or flexed arm/wrist posture "
this loss of muscle control and dystonia may occur during walking (when muscles will be tensed) resulting in a loss of ability to control stability or provide propulsion, therefore the forward lean assists both of these. Additionally, in hinged AFO's she may be unable to plantarflex for her third rocker (depending on trim lines and footwear characteristics), and therefore will need to use some other mechanism to provide propulsion - her forward lean. The increase in this may just represent the progression of the disease?

The hinged AFO's would appear to be effective, although the speed of walk is so fast it is difficult to assess the ankle and foot posture and motion! Rigid AFOs may, in theory, hold the shank back which may help to slow down her forward lean, but in practice I would imagine she would just rock onto the forefoot of the shoe (where possible) instead, resulting in even less stability. DAFO's may provide sufficient control of the foot posture as a variation from hinged AFO's but if these are correcting then it may not be worth changing them if increased tone in the foot is not an issue.

Another possibility for her increase in speed and forward lean in open spaces may be a reduction in the visual feedback and apparent 'safety' of nearby objects (furniture / walls etc) which may promote a sensation of less stability, resulting in the forward lean posture to try and maintain it, or that the nearer objects in less open space may slow down her walking in order that she does not collide with them, giving more time for her muscles to maintain stability!????

The only other additional suggestion I have is to try a walking aid - just to slow her down a little and provide some external stability. She may just chose to carry tripod sticks or the like, but they may allow her to walk more slowly, or even a rollator / kaye walker which may seem excessive given her independent ability, but may slow her down enough (with education and facilitation) to improve her control of stability and and movement??

anyhow, just a few thoughts. An interesting case.


Helen Evans
Research Physiotherapist
Human Performance Laboratory
Division of Physiotherapy Education
Clinical Sciences Building
City Hospital Campus
Hucknall Rd
Tel: 0115 8231931

I have seen many cases like this in my career of 7 Years in Developmental Physiotherapy. My opinions regarding this case is followings:

What is your differential diagnosis?

Ans: Possibilities are:

a. Mild spastic with Ataxic Features./ Dyskinesia with selective spasticity

b. Earlier she was having Hypotonia ( History;  born "floppy" in 2001)- But progressively she could have developed tone which is quite common among these groups and failure to control the tone in body whould have lead to some muscle becomes spastic specially of LL while muscles of trunk remain hypotonic-mildly. Thus today she is having more ranges of spinal flexion ( as it appears from video) while there is lack of extension/ flexion control in her trunk)

Also there appears to be no rotational movement happening in her trunk during walking- reason could be her relience on spinal extensors which possibly is giving her stiff spine and it becomes more pronounced as she increases the speed of walking. Also that she may not be having good eccentric strength in her rectus abdominus.

any relationship to the recent onset of ocular motor apraxia?

Ans: No idea.

What investigations would you order?

X- Ray Hip joint- A-P Vew- Supine (Non weight bearing) and Standing (Weight Bearing)

X- Ray Ankle- Lateral view ( Weight bearing and non weight bearing- Check the position of Talus, Navicular, Cuboid and cuniforms. look for Medial longitudinal arches

X- Ray Cervical spine- Rule out Atlanto-Axial subluxation.

Physical Examinations: Spinal Rom Flexion, Extension, Rotationa nd Lateral flexion(She may be having more lateral flexiona nd rotation at T12- L1- L3 level- Subject to clinical verification).

Do you agree with the orthotic prescription?

Ans- Orthotic prescription is 100% at mistake. The hinge joint is more posterior to ankle joint axis (Malleolus).

Recommended orthosis will be Double wall controlled dynamic AFO using Camber axis hinge joint on one side and PU-Hinge joint on other side. This double wall orthosis will have inner shell made of Thermoplastic material with estension on dorsum of forefoot while giving medial arches. This will be reinforced by Outer Polypropylene shell where the hinge joint will be fitted.

The camber axis joint will have the option of controlling DF and PF to any amount of possible anglutation. I will prefer to have zero degree DF and PFinitially which will later on be changed to 2-3 degree angle of DF or PF subject to clinical reasoning. This will ensure development of normal arching as well as good alignment of ankle bones and thus normal balancing for Gait.

What other interventions would you recommend?

I hope all these will surely help the child to improve.

This is possible for her to walk without forward inclination of trunk.

Any more input requires then you are most welcome.

With best wishes

Amitesh Narayan
KMC Mangalore

Has this child developed a visual field defect that necessitates this head/body posture ?

Mrs Sybil E Farmer MSc MCSP

Robert Jones and Agnes Hunt Orthopaedic and District NHS Trust
SY10 7AG
00 44 1691 404530

It certainly is an interesting case,

Firstly i would like to order several sets of x-rays to examine the skeletal system, and evaluate her back for signs of lordosis/kyphosis, and scoliosis.(This may have already happened hence the recent onset of forward leaning) Full body would be ideal (weightbearing), and at least you could examine the hip structure at the same time. Is there any history of hip dysplasia? If there is no signs of scoliosis or lordosis/kyphosis then the family should be wary, because if she hasn't already got one there is the possibility that she will develop one later on. Has her limb lengths been evaluated as this may also be playing a role in her swing phase causing her to use her arms excessively for support particularly when the right leg is in ground contact.

Next test i would do is emg to rule out any problems with the nerve conduction to the muscles. She has a lot of trouble to initiate her gait cycle even on an incline she has to bend forward almost 70 degrees before her heels come off the ground and it almost to the point whereby if she didn't start walking she would fall over. (parkinsonian like) Is this a problem with the AFO's i dont know. It would also be useful to see her walk without the AFO's to have a comparison of the two gait cycles. Is the AFO excacerbating the gait?

Other than an emg, how is her proprioception in general as mentioned before if she is having to lean forward to initiate motion can she self right herself or is she unable to do this and hence why she does this?

I think that to slow her down with canes or walkers is a good idea however, i think that she may only become worn out with it. Its almost at the stage where the girl is running all the time, and it might be difficult to slow her down enough just with canes.

I think she requires more control over her lower extremities to what extent is difficult to establish as too much control might be detrimental to her gait i think that she may benefit from a hip knee and ankle orthoses maintaining RoM as much as possible to ensure proper propulsion. She may also benefit from a spinal orthoses to maintain a better back posture.

In the segment where she has a break, and then starts walking again it can be noted that she has barely started the swing phase of the left leg and she is almost at toe off on the right foot this again is problematic due to her mode of inertia.

Certainly work needs to be done to improve her posture and get her centre of gravity sorted out. As it so far forward at the moment it has an adverse effect on her momentum and probably why she has to almost run so that she doesn't trip and fall.

Robert Alexander Menzies

From Mum...

The replies so far have been really helpful and for the latest reply from Robert Alexander Menzies I can put together a clip of her walking without her afo's .. I have some clips of her outdoors with ankle boots and no Afo's which she can wear for very short periods .. if it were barefoot I would have to do indoors as she has trouble getting her right foot clear of the ground without shoes or afo's on and scrapes her toes!!

Exercises that I would get her to do:
  These last two exercises include rotational mobility and strength. She does not appear to rotate and counter rotate in her gait.

Proprioceptive exercises on the fitball and duradiscs to enhance coordination

Also look at corrective lenses, upper cervical spine for atlas subluxation, vestibular system breathing - nasal and diaphramatically and (if i go out on a limb here) her viscera to see if she has any adverse reaction to any medication she may be taking (I suspect she may be taking some because of all her problems???). Often with gut/digestion problems the muscles that share the same organ innervation shut down or become less effective.

Tests: Movement stability, spinal rotation, joint range of motion.

Ross Eathorne CHEK III, Nutrition and lifestyle Coach II,Golf Biomechanic
Bodyactive "fitness from head to toe"

Dear Chris and all,

Nice to have a new case online for discussion... but this Speedy Gonzales is a tough one!

DD is especially hard... listed symptoms don't match with any case I have come across so far (definitely not  "pure" ataxic or athetoid CP) ... so which syndrome? (Am not placing any bets on any of these...)

All this is guess-work and the list of possibilities sure not exhaustive!!!!

Brain MRI, gaitlab !!!, genetic testing seems indicated for further investigation.

What is the reason for the sudden change in gait, particularly the forward trunk lean?

Sudden onsets and progression of the symptoms suggest neurological causes, maybe exacerbated by biomechanical issues. 
Whether the history as outlined is due to growth or natural history of the disorder is impossible to tell without an established diagnosis.
The suggestion of relationship to the recent onset of ocular motor apraxia is an interesting possibility, but it looks more like she knows pretty well where she's going (at least roughly, as from landmark to landmark), she just can't regulate her walking speed!
The orthotics look OK from what one can tell from the pic with the socks on (even with the hinge a bit too posteriorly placed) . In contrast to Helen I'd suggest more, not less restriction... maybe ankle-weights, modified ski-boots with a rocker-sole, or cast-boots (see pic, photographed at Dutchess of Kent Hosp., HK) could be worth trying out.

From my point of view one's got to figure out ways to slow her down before she hits a wall or falls badly, even if it makes her walking a bit more cumbersome. Someone suggested a walker, I think a kaye (rear) walker with a friction-brake might do the job. Don't think she'd be able to handle canes.

Questions to the presenter of the case:

If she is "in fact very strong", then why does she wear a lycra spinal suit? In fact I doubt this assessment of strength, the increased forward lean indicates a weakness of the hip extensors and/or a contracture of the flexors (?).
Are you sure that her "bouts of dystonic posturing & muscle spasms involving brief loss of muscle control" are actually triggered by "flexed arm/wrist posture" or that these rather go along / coincide with making strenuous muscular efforts, especially when initiating a movement, e.g. standing up?
Her medial arch doesn't get sore wearing the AFOs?

Very unique and confusing case, very curious what the future course will show.... any chance of getting info about the follow-up?

Henner Wenkhausen

Physiotherapist, MMPA, MZVK, MAusACPDM
BA-PT Program, University of Applied Sciences
Oldenburg-Ostfriesland-Wilhemshafen, Emden Campus
Home: Friedrich Ebert Str. 3/16, 26725 Emden
Mobile: (0049) 0178 1686223

from Mum...

medication. ~  was on tegretol from 5 months old until she was 2.5 ... we lost control of the epilepsy quite suddenly very shortly after the onset of the eye problems. She then started with sodium valproate and was weaned from the tegretol. we've had pretty good seizure control with the sodium valproate . She weighs 17kg and takes 640mg a day Shes been on this drug for two years now  . She is still having small atonic sz's now and again and we are due for a medication review on the 17th July to discuss possible second medication to prevent these and of course to discuss this dodgy walking! Im not sure about adding more meds .. im wary of cocktails  and the possible side effects v's the relatively small impact that the odd atonic sz lasting a few seconds has on her life.

3 x MRI .. reports from the first two were very short .1st showed  delayed myelination , slightly prominent ventricles . 2nd ~ delayed myelination, slightly prominent ventricles and thin white matter of the peritrigonal regions. The 3rd and most recent at Guys was done after the onset of the ocular motor difficulties and sadly the LOSS of the first two MRI films and reports! ( we have no clue HOW they went missing but it left us with nothing to compare to)  report says . Similar features to those mentioned on previous reports :slight prominence of the ventricles with persistence of the terminal myelination zones  (?!?! ) but most importantly NO evidence of any progressive cerebella or brain stem loss .

( this confused me a little as the letter that was sent to us says  Diagnosis : progressive neurological disorder of unknown aetiology.  yet there is no MRI evidence .. however she has had a strange cycle of lost skills .. at age 14 months had pretty normal speech development bit delayed but she lost all of it literally overnight after a period of poor seizure control. Of course she also lost control of her eye movements at age 2.5 . The speech is developing now but its severely disordered  )

3x EEG all reported within the normal limits. Yet we KNOW she has seizures  i find this particular pill a very hard one to swallow because I thought EEG would have all the answers!

All came back NORMAL  or within normal limits  except urine amino acids; we are still waiting for genetics for the SCA's  spinocerebellar ataxias .

"in fact very strong", then why does she wear a lycra spinal suit

my understanding is that she has low muscle TONE, not muscle weakness something I've not really ever really understood . She would have problems with sustained strength but she kicks like a mule and has an amazing strength when she needs to for short spurts. Does that make sense ?

Are you sure that her "bouts of dystonic posturing & muscle spasms involving brief loss of muscle control" are actually triggered by "flexed arm/wrist posture" or that these rather go along / coincide with making strenuous muscular efforts, especially when initiating a movement, e.g. standing up?

from my email to you explaining this ...

      *she has bouts  of dystonic posturing / muscle spasms but when they come they are short loss of muscle control by over tensing the muscles or posturing in terms of a curled arm / hooked wrist where she seems to be recruiting tone and strength from her body to carry out a task. or to steady herself when unbalanced.*

so yes he is correct  the loss of muscle control isn't triggered by the posturing they are seperate events .. posturing can be for no apparent reason other than she seems happy to sit with a curled hand or she will curl and tighten her hand / arm when initiating a task. The loss of control can be something like reaching for something or even signing a basic sign and she loses control of her hands, arms and cannot make the sign ... this seems to me that her speech is affected in this way too when she TRIES really hard she seems to spasm and nothing comes out. Drives the rest of us insane but thank goodness she seems eternally patient with it .

The comparison of the HAFO and NO HAFO gait is interesting. It seems that at times she is more erect without the AFOs that with them.  This is seen fairly often when she is crossing the street.  Can someone explain what happens to the ankle joint when the hinge is posterior to the axis of the joint?
Also what is the manual muscle test score for the gluteus maximus, soleus and gastrocnemius muscles?

Thank you,
Judy Carmick, PT

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