Lecture 13: Arthrogryposis Multiplex Dongenita Flashcards
What disease is characterized by severe joint contractures, muscle weakness, and fibrosis at birth?
* Is it progressive
* How many contractures at birth do they have to have to have this
Arthrogryposis Multiplex Congentia
Non progressive
2 or more contractures at birth
NOTE: its fatal in the neonatal period 50% of the time
Fetal Akinesia = makes sense, they lack movement at those contractures
Not on one gene
> 150 different contracture syndromes mapped to specific genes
Etiology theorized due to patch damage of anterior horn cells
Categories Leading to Decreased Fetal Movement
* Maternal illness or exposures
* Fetal Crowding - think twins
* Neurological Deficits
* Vascular Compromise
* MEtabolic Disturbances
* Neuromuscular End Plate disturbances
* Connective tissue abnormalities / skeletal deficits
* muscle deficitds
What is the most common form of arthrogryposis Multiplex Congentia?
* What is it
* How many extremeities involved
* Are the disturbances symmetrical or asymmetrical?
* What do the extremities look like?
Amyoplasia
* Deficient formation of the muscle tissue
* 90% of surviving children
* Symmetrical distribution of multiple joints
* Extremities - Tubular appearance without normal skin folds over joints
Surgical management for arthrogryposis Multiplex Congentia
* club foot deformity - surgery because they want that foot flat
* Hip subluxation
* Knee contractures
* Patellar realignment
* Shoulder reconstruction (rare)
Were going to do some compensation and rehabilitation because they’re not going to be able to get back 100% to normal
Work on strenghtening what they already have
Stretch in the avilable range, might be able to get slightly more ROM
We need to be careful w/ positioning, we don’t want more contractures to form
