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Arthrogryposis(Amyoplasia or Arthrogryposis Multiplex Congenita [AMC])
David S. Feldman, MD
Chief of Pediatric Orthopedic Surgery
Professor of Orthopedic Surgery & Pediatrics
NYU Langone Medical Center & NYU Hospital for Joint Diseases
OVERVIEW
The word “arthrogryposis” is actually a
catch-all term used to describe
instances of joint contractures that are
present at birth.
Treatment varies according to the
cause and severity of the condition but
when treatment begins at an early age,
children can gradually become stronger
and experience improved joint mobility
and function that can last the rest of
their lives.
DESCRIPTION
Arthrogryposis is a rare medical
condition that only occurs in about 1 in
10,000 live births.
The condition is characterized by
malformed or stiff joints, muscles, and
tendons that result in arms, legs,
hands, and / or feet having limited to no
mobility.
The cognitive function of children with
the condition is not affected. In fact,
they are often extremely bright and
communicative.
CAUSES
There is no one specific cause of
arthrogryposis but the most common
causes are genetics and intrauterine
viruses.
Genetic causes often only involve the
hands and feet while other causes
typically result in more generalized
weakness and contractures.
DIAGNOSIS METHODS
Arthrogryposis tends to be found in its
most severe form during newborn
examinations.
Given the various possible causes of
arthrogryposis, proper diagnosis plays
a very important role in determining
treatment.
Diagnosis methods may include MRI,
muscle biopsies, blood tests, DNA
testing, studies, and / or observations.
TREATMENT
Arthrogryposis may require very
complex treatment and should
therefore only be undertaken by health
professionals who are not just familiar
with the disease but have a high level
of expertise in treating arthrogrypotic
patients.
I believe that if a child is to have
surgery, there must be an expected
outcome that can change the child’s
life. This ensures that children do not
undergo multiple painful surgeries that
result in very little change in their
condition.
To achieve the best functional outcomes, I:
 Assess the patient’s underlying muscle strength
 Outline realistic goals
 Assess the potential benefits of treatment
 Partner with an exceptional team of experienced
medical professionals to provide treatment
Non-surgical Treatment
Occupational / Physical Therapy
In some cases it may be possible to correct
arthrogryposis to some degree with therapy
alone. Therapy may include mobilization,
casting, and splinting that would be ongoing
in addition to any other treatments.
Casting / Splinting
The primary treatment for wrists, hands and
clubfeet and often the only treatment
needed. It can be performed by me and / or
therapists and may be utilized at all ages.
Psychosocial and Emotional Therapy
Any physical disability can have an impact
on body image and children who have
multiple surgical procedures need a strong
support system. Having your family work
with experienced psychologists, social
workers and child life specialists is essential
for an overall happy child and family.
Surgical Treatment
The goal of surgical treatment for
arthrogryposis is often to straighten
curved bones and / or bent joints. While
many of these issues can be corrected
through casting, surgery may be
required in cases that are complex or
involve older children.
On some surgical procedures, I partner
with a highly skilled (wound) plastic
surgeon. We have been thrilled with the
outstanding results of working in
tandem on cases such as severe knee
contractures with and without webbing
(pterygium).
Soft Tissue Release
Contractures are caused by shortened or
abnormally tight soft tissue which prevents
limbs from moving as they should.
In soft tissue releases, contractures are
relaxed by cutting the tight muscle, tendon,
or ligament which allows the limb or
extremity to move more freely.
Tendon Transfer
A tendon is a tough type of tissue which
connects muscles to bones, keeps limbs in
position, and plays an important role in the
movement of body parts.
Tendons may be moved from one part of the
body to another to correct the positioning
and / or enable movement of a limb.
Osteotomy
An osteotomy is a surgical procedure where
a curved or deformed bone is broken and
reset. Internal pins or plates and screws are
utilized and at times external frames called
“fixators” are used to hold/guide the bone
into the correct position and proper
alignment.
Frames & Devices (Fixators)
External frames (ex: Taylor Spatial Frame,
Ilizarov Frame, etc.) consist of adjustable
stainless-steel discs and rods that are
affixed to bone and held in place by pins and
struts.
The tension of the wires are adjusted to
distribute force through the top and
bottom discs of the frame. This relieves
stress from the osteotomy site while the
bone re-aligns and tissues in the limb
are slowly stretched.
Growth Modulation
Growth plates are bits of cartilage at the
ends of children’s long bones which create
new bone tissue. Growth modulation is a
minimally invasive procedure that
temporarily alters the growth plate allowing
bones to be straightened as they grow.
CONCLUSION
Arthrogryposis is varied and can be
challenging for the patient, family and
caregiver. Parents might feel
discouraged and the situation may
seem hopeless but after treating many
patients I know that we should never
give up.
While outcomes may vary and goals
might change, my arthrogrypotic
patients have been amongst the most
personally rewarding patients to treat
as I’ve been able to see them grow
over time and reach new functional
milestones with treatment.
CASE STUDIES
Axel: Arthrogryposis, Clubfeet, & Dislocated Hips and Knees
At the time of Axel’s birth, it was apparent to both Axel’s parents and doctors that there
was something very wrong with his legs. His pediatrician had never seen a case like his
before. The family hoped to begin treatment immediately and I began treating Axel when
he was three days old.
http://www.davidsfeldmanmd.com/patient-education/case-studies/axel-arthrogryposis-clubfeet-dislocated-knees-hips
Douglas: Arthrogryposis, Bilateral Clubfeet & Ankle Varus
I first met Douglas when his parents brought him in at the age of 1 week old for a
consultation on his bilateral clubfeet. However, during my initial examination of Douglas I
found a combination of symptoms that indicated he actually had arthrogryposis with
clubfeet.
http://www.davidsfeldmanmd.com/patient-education/case-studies/douglas-arthrogryposis-bilateral-clubfeet-ankle-varus
David S. Feldman, MD
Pediatric Orthopedic Surgeon
www.davidsfeldmanmd.com

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Arthrogryposis

  • 1. Arthrogryposis(Amyoplasia or Arthrogryposis Multiplex Congenita [AMC]) David S. Feldman, MD Chief of Pediatric Orthopedic Surgery Professor of Orthopedic Surgery & Pediatrics NYU Langone Medical Center & NYU Hospital for Joint Diseases
  • 3. The word “arthrogryposis” is actually a catch-all term used to describe instances of joint contractures that are present at birth.
  • 4. Treatment varies according to the cause and severity of the condition but when treatment begins at an early age, children can gradually become stronger and experience improved joint mobility and function that can last the rest of their lives.
  • 6. Arthrogryposis is a rare medical condition that only occurs in about 1 in 10,000 live births.
  • 7. The condition is characterized by malformed or stiff joints, muscles, and tendons that result in arms, legs, hands, and / or feet having limited to no mobility.
  • 8. The cognitive function of children with the condition is not affected. In fact, they are often extremely bright and communicative.
  • 10. There is no one specific cause of arthrogryposis but the most common causes are genetics and intrauterine viruses.
  • 11. Genetic causes often only involve the hands and feet while other causes typically result in more generalized weakness and contractures.
  • 13. Arthrogryposis tends to be found in its most severe form during newborn examinations.
  • 14. Given the various possible causes of arthrogryposis, proper diagnosis plays a very important role in determining treatment.
  • 15. Diagnosis methods may include MRI, muscle biopsies, blood tests, DNA testing, studies, and / or observations.
  • 17. Arthrogryposis may require very complex treatment and should therefore only be undertaken by health professionals who are not just familiar with the disease but have a high level of expertise in treating arthrogrypotic patients.
  • 18. I believe that if a child is to have surgery, there must be an expected outcome that can change the child’s life. This ensures that children do not undergo multiple painful surgeries that result in very little change in their condition.
  • 19. To achieve the best functional outcomes, I:  Assess the patient’s underlying muscle strength  Outline realistic goals  Assess the potential benefits of treatment  Partner with an exceptional team of experienced medical professionals to provide treatment
  • 21. Occupational / Physical Therapy In some cases it may be possible to correct arthrogryposis to some degree with therapy alone. Therapy may include mobilization, casting, and splinting that would be ongoing in addition to any other treatments.
  • 22. Casting / Splinting The primary treatment for wrists, hands and clubfeet and often the only treatment needed. It can be performed by me and / or therapists and may be utilized at all ages.
  • 23. Psychosocial and Emotional Therapy Any physical disability can have an impact on body image and children who have multiple surgical procedures need a strong support system. Having your family work with experienced psychologists, social workers and child life specialists is essential for an overall happy child and family.
  • 25. The goal of surgical treatment for arthrogryposis is often to straighten curved bones and / or bent joints. While many of these issues can be corrected through casting, surgery may be required in cases that are complex or involve older children.
  • 26. On some surgical procedures, I partner with a highly skilled (wound) plastic surgeon. We have been thrilled with the outstanding results of working in tandem on cases such as severe knee contractures with and without webbing (pterygium).
  • 27. Soft Tissue Release Contractures are caused by shortened or abnormally tight soft tissue which prevents limbs from moving as they should. In soft tissue releases, contractures are relaxed by cutting the tight muscle, tendon, or ligament which allows the limb or extremity to move more freely.
  • 28. Tendon Transfer A tendon is a tough type of tissue which connects muscles to bones, keeps limbs in position, and plays an important role in the movement of body parts. Tendons may be moved from one part of the body to another to correct the positioning and / or enable movement of a limb.
  • 29. Osteotomy An osteotomy is a surgical procedure where a curved or deformed bone is broken and reset. Internal pins or plates and screws are utilized and at times external frames called “fixators” are used to hold/guide the bone into the correct position and proper alignment.
  • 30. Frames & Devices (Fixators) External frames (ex: Taylor Spatial Frame, Ilizarov Frame, etc.) consist of adjustable stainless-steel discs and rods that are affixed to bone and held in place by pins and struts.
  • 31. The tension of the wires are adjusted to distribute force through the top and bottom discs of the frame. This relieves stress from the osteotomy site while the bone re-aligns and tissues in the limb are slowly stretched.
  • 32. Growth Modulation Growth plates are bits of cartilage at the ends of children’s long bones which create new bone tissue. Growth modulation is a minimally invasive procedure that temporarily alters the growth plate allowing bones to be straightened as they grow.
  • 34. Arthrogryposis is varied and can be challenging for the patient, family and caregiver. Parents might feel discouraged and the situation may seem hopeless but after treating many patients I know that we should never give up.
  • 35. While outcomes may vary and goals might change, my arthrogrypotic patients have been amongst the most personally rewarding patients to treat as I’ve been able to see them grow over time and reach new functional milestones with treatment.
  • 37. Axel: Arthrogryposis, Clubfeet, & Dislocated Hips and Knees At the time of Axel’s birth, it was apparent to both Axel’s parents and doctors that there was something very wrong with his legs. His pediatrician had never seen a case like his before. The family hoped to begin treatment immediately and I began treating Axel when he was three days old. http://www.davidsfeldmanmd.com/patient-education/case-studies/axel-arthrogryposis-clubfeet-dislocated-knees-hips Douglas: Arthrogryposis, Bilateral Clubfeet & Ankle Varus I first met Douglas when his parents brought him in at the age of 1 week old for a consultation on his bilateral clubfeet. However, during my initial examination of Douglas I found a combination of symptoms that indicated he actually had arthrogryposis with clubfeet. http://www.davidsfeldmanmd.com/patient-education/case-studies/douglas-arthrogryposis-bilateral-clubfeet-ankle-varus
  • 38. David S. Feldman, MD Pediatric Orthopedic Surgeon www.davidsfeldmanmd.com