Saturday, June 8, 2019

Distal Arthrogryposis- thoughts and techniques for treatment

Distal arthrogryposis is defined as multiple contractures affecting the hands and feet.  This can include the thumb, fingers (camptodactyly) or clubfoot.  Our understanding of these conditions continues to expand and these sites each provide great information:
Rare Disease site
Genetics site
OMIM


While distal arthrogryposis may be lumped as a diagnosis, the diagnosis can also be subdivided into different types as the links above clarify including Type 1, Type 2B, Freeman Sheldon, and more.  Each type of distal arthrogryposis is somewhat different in presentation, genetics (including identified genes and inheritance pattern), and more.  The severity of involvement of the fingers, thumb, etc vary notably from type to type and patient to patient.  This is what make arthrogryposis patients so difficult to treat and so difficult to predict outcome from treatment.

I have previously posted several times on camptodactyly which means bent finger. 
Post 1
Post 2 and others as well.


The finger is bent through the PIP joint (first joint actually in the finger) and typically in arthrogryposis, can't be straightened. Therapy can absolutely be helpful and is always recommended as the first step.  But surgery might be helpful for function (especially if the bent finger is getting in the way of grasp).  Additionally, it has been suggested that when the finger is left untreated, arthritis can develop and joint deformity can become an issue.

The thumb is often a bigger functional issue due to its flexed position.  It makes large object grasp difficult and can also get in the way.  The function and position of the thumb is always important BUT becomes even more important in kids with severe finger limitations.  Those kids depend on a good thumb for most of their hand function.  I have previously posted on the thumb in arthrogryposis here:
Post 1
Post 2 and others as well.

This child is about 5 years of age.  The pictures do not present his challenges well (I am trying to take more video but...).  His middle finger is bent 90 degrees and stuck.  His thumb is very tight at the MCP joint and his a complex skin contracture as well.



Distal arthrogryposis with tight thumb and middle finger



Distal arthrogryposis.  First web space (thumb space) is tight!

Distal arthrogryposis with tight middle finger (can't be straightened) and tight thumb.

Given the functional limits caused by the distal arthrogryposis and primarily the thumb and middle finger, the family elected to proceed with surgery.  Therapy had provided some, but not enough improvement.  The thumb was flexed and could not be straightened.  The space between the thumb and pointer finger was very tight.  The middle finger was bent and could not be straightened.  

I have posted on different techniques which overlap with treatment here.  I recently posted on our treatment of camptodactylyCamptodactyly Post- and I treated this patient in a similar way.  I have also previously posted on the thumb.  However, in this case, I used a somewhat different flap to resurface and deepen the first web space.   This is a modification of the traditional Buck Gramcko flap for first web space reconstruction.  Abdel- Ghani has written about this and shared his positive results:



I also stiffened (a procedure called a chondrodesis) the thumb MCP joint to help keep the thumb in a better position.  I expect this child will do very well.

Distal arthrogryposis treated thumb and middle finger reconstruction

Distal arthrogryposis treated thumb and middle finger reconstruction


Distal arthrogryposis treated thumb and middle finger reconstruction

Charles A. Goldfarb, MD
My Bio at Washington University
email: congenitalhand@wudosis.wustl.edu

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