Case of the week: 21-6-2006

Progressive neurological disorder of unknown aetiology

History

• born "floppy" in 2001
• been tested for all the known ataxias with no concrete diagnosis: provisionally "progressive neurological disorder of unknown aetiology"
• had intensive PT and began wobbly walking age 23 mo
• uses bilateral hinged AFOs (pictured below) and a soft lycra spinal suit
• pronates badly without AFOs after just a couple of hours to the point that the sides of her feet get sore & tends to trip
• some carry over from her AFOs for a while after they are removed
• no obvious weakness - in fact very strong
• associated problems
• epilepsy
• developed ocular motor apraxia suddenly 2 y ago - now classed as visually impaired
• moderate learning difficulties and severe dysarthria and apraxia
• can only manage one syllable at a time
• communicates through a mixture of single syllable words and sign language which is also limited due to poor fine motor skills
• bouts of dystonic posturing & muscle spasms involving brief loss of muscle control
• triggered by tensing muscles or flexed arm/wrist posture
• recently when moving about in open spaces she has started to move faster (at real speed) and appears to be leaning forward over her toes
• leaning forward has become more pronounced since this video was recorded a few weeks ago
• now falling quite a lot on uneven surfaces
• has to tilt her head backwards and seems to be straining her neck somewhat too

Movies
 

With AFOs	AVI format
Without AFOs	WMV format

Points for discussion

• What is your differential diagnosis?
• What is the reason for the sudden change in gait, particularly the forward trunk lean?
• biomechanical or neurological?
• growth or natural history of the disorder?
• any relationship to the recent onset of ocular motor apraxia?
• What investigations would you order?
• Do you agree with the orthotic prescription?
• if not, what would you suggest?
• What other interventions would you recommend?

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