Arthrogryposis

and
Amyoplasia
Terence Tay
Terminology
Arthrogryposis
Syndrome of non progressive joint
contractures present at birth
multiple congenital joint contractures

!
arthrogryposis multiplex congenita (AMC)
Stern WG: Arthrogryposis multiplex congenita. JAMA
1923;81:1507-1510 .
Arthrogryposis
Encompassesa broad spectrum of
diseases, common phenotype of multiple
congenital contractures
Amyoplasia
(A= no; myo=muscle; plasia=growth)
Distinct form of arthrogryposis
!
Described by Hall et al

!
characterized by quadrimelic involvement
and replacement of skeletal muscle by
dense fibrous tissue and fat
Amyoplasia
may not specifically describe one single group
of patients
-sacral agenesis :-form of primary segmental
amyoplasia in which there is an absence or
greatly reduced number of muscle fibers in an
otherwise normal extremity
-a decrease in anterior horn cells and white
matter, indicating a primary neurogenic cause,
has been documented in the autopsy results of a
patient with amyoplasia
8
Epidemiology
Multiplecongenital pathologic
contractures (arthrogryposis),occur in
about 1 of every 3,000 live births
amyoplasia occurs in 1 of every 10,000 live
births
Inheritance
May be inherited in several patterns
Autosomal dominant
Autosomal recessive
X-linked recessive
Sporadic
Mitochondrial
Can be caused by single gene defects
Etiology
Fetalakinesia (limited fetal movement)
seems to be a common element in the
development of most types of
arthrogryposis
-oligohydramnios, tight package
 Freeman-Sheldon syndrome
Has characteristic facial
features and condition
affecting hands and feet
!
!
Beals syndrome
Contractural
arachnodactyly with PIPJ
flexion contractures
Upper limb
Shoulder- adducted, internally rotated
Elbow extended
Wrist flex and ulnar deviated
Fingers- flex and thumb adducted
Lower limb
Hip-adducted and flexed
(30%- dislocated)
Knee- flexed or extended/ dislocated
Foot- equinovarus, congenital vertical talus
General appearance
Scoliosis-30%
Muscle mass reduced
Fusiform limb with no skin crease over joint
Webbing across joint
Loss of deep tendon reflexes
Other things need to look for..
Hypoplasia of labial fold
Inguinal hernia
Crytorchism
Abdominal wall defect
Bowel atresia
gastroschisis
Distal arthrogryposis
groupof inherited diseases that primarily
involve the hands, feet, or both
Distal Arthrogryposes
group of autosomal dominant disorders
that mainly involve the distal parts of the
limbs
!
Categorized into 9 different groups
Classified by Hall et al and Goldberg and
later Bamshad et al
Distal Arthrogryposis Type 1 (DA1)

characterized largely by camptodactyly

and clubfoot
The shoulders and hips are less frequently
affected.
Isolated hypoplasia of the distal
interphalangeal crease of the fifth digit to
severely clenched fists and ulnar deviation
of the wrist..
Distal Arthrogryposis Type 2 (DA2)

phenotypically similar to a condition

called Freeman-Sheldon syndrome
characterized by oropharyngeal
abnormalities, scoliosis, and a distinctive
face
whistling-face syndrome.
Distal Arthrogryposis Type 5 (DA5)

individuals have ocular abnormalities

ptosis, restricted movement of the
extraocular muscles, and/or strabismus
!
pulmonary hypertension as a result of
restrictive lung disease *recent findings
Distal Arthrogryposis Type 7 (DA7)

trismus-pseudocamptodactyly syndrome,
TPS
shortened hamstring muscles and short
stature
Distal Arthrogryposis Types 3, 4, and 6 (DA3, DA4, and DA6)

Very rare
DA3, or Gordon syndrome , is
distinguished from other distal
arthrogryposes by short stature and cleft
palate. Hearing impairment
DA4 has scoliosis, torticollis and cervical
vertebrae fusion
DA6 has sensorineural hearing loss
Distal Arthrogryposis Type 8
Also called autosomal dominant pterigium
syndeome
Pterigium in the neck, axilla, elbow and
knee
Distal Arthrogryposis Type 9
Contractural aracnodactyly or Beal
syndrome
Central Nervous System Causes
of Arthrogryposis
Developmental abnormalities affecting
the forebrain (e.g., hydranencephaly,
microcephaly, or forebrain neuronal
migration disorders),
!
joint contractures are probably due to
diminished corticospinal tract activation of
spinal cord motor neurons
Example of neurological causes
X-linked spinal muscular atrophy, a
progressive motor neuron disease
infantile spinal muscular atrophy (Werdnig-
Hoffmann disease)
Neuromuscular Causes of
Arthrogryposis
Neuromuscular junction blockade in
fetuses carried by mothers with
myasthenia gravis
Congenital myopathies- mutations of
genes that encode fetal skeletal-muscle
myosin heavy chains
!
Electromyography is useful
Treatment
? Fixed Joint Contracture
? Distal Arthrogryposis
General Management
Individualized to each childs needs
Goals
Independent function i.e. for feeding
Increase ROM

!
Team approach between physicians and
therapists
 Non operative treatment
Frequent passive movement of
all involved joints for increased
mobilization
Use of static progressive splints
Serial casting
Orthotics
These are most effective for
distal contractures, and not
usually effective for
contractures in amyoplasia
Surgical Management
Recommended for fixed joint contractures
that preclude or interfere with upper-limb
function
Timing of surgery is controversial
Usually recommended before 4-5 years of
age to minimize compensatory
movements and maximize school function
Surgical correction of
elbow contracture
 !
!
!
J Hand Surg 2012;37A:10781082. Copyright 2012 by
the American Society for Surgery of the Hand. All
rights reserved
Introduction
Loss of elbow flexion limits in function like
feeding and self care
!
Any surgery is dependent on preoperative
level of contracture and limb function
Selection of patient
Young patient, good triceps function
Pre op elbow flexion beyond 45 degree

!
When conservative management fails..
Surgical technique for posterior elbow
release and humeral osteotomy
First part of surgery
1. Release of posterior elbow
Posterior skin incision
Locate the ulnar nerve and preserve
 Incise
the tendon of the triceps in a distally
based, V-shaped incision just distal to the
musculotendinous junction.
 Release posterior capsule
Take care not to release the main bands
of the medial or lateral collateral
ligaments
2nd part of surgery
2. Humeral external rotational osteotomy- only
when there is internal rotation of shoulder
elevate the triceps extraperiosteally off the
humerus in a medial to lateral direction,
exposing the distal half of the medial
diaphysis and the posterior and medial
metaphysis
Perform a transverse osteotomy
3rd part of surgery
3. Closure
Repair the triceps in a lengthened position
in a V-to-Y fashion with non absorbable
braided suture
Cast for 3-4 weeks and start active ROM
 Able to achieve passive elbow flexion
Shoulder in good position to optimize hand
to mouth function
Steindler Flexorplasty
The Steindler Flexorplasty for the
Arthrogrypotic Elbow
Charles A. Goldfarb, MD, Michelle S. Burke, BS,
William B. Strecker, MD, Paul R. Manske, MD, St Louis, MO
Steindler flexorplasty
Initially
decribed to treat paralytic
condition
!
Transfer the proximal osseous origin of the
wrist and finger flexor from medial
epicondyle to more proximal and lateral
to the humerus
!
Mayer and Green
Surgical technique
Steindler flexorplasty
Flexor pronator muscle identified
!
small wafer of the bony/cartilaginous
medial epicondyle is separated in
continuity with the muscle mass
Eight elbows were treated with screw
fixation; 4 with
heavy, nonabsorbable sutures; 3 with
metal sutures;
and 2 with K-wire fixation
Post op
Place in posterior splint that block
extension but allow passive flexion exercise
for 4 weeks
Start active ROM at 6weeks and
strengthening at 3 months
Criticism about this technique
Insufficient
strength
Limit elbow extension and supination
Increased in wrist and finger flexion
Other technique
Tendon transfer
Triceps to Biceps Transfer
Pectoralis to Biceps Transfer
Latissimus Dorsi to Biceps Transfer
Triceps to biceps transfer
Triceps
can be transferred with minimal
morbidity because gravity can assists
elbow extension
Muscle strength of grade 4

Van Heest et al, Williams

Lackof power in extension can prohibits
crutch walking
Pectoralis to Biceps Transfer

Unipolar vs bipolar transfer

not always aesthetically pleasing
!
- unipolar transfer adducts the arm
substantially and creates an abnormally
large anterior axillary fold
!
- bipolar transfer is a more complex procedure
that deprives the arm of an adductor and can
lead to significant scarring
Latissimus Dorsi to Biceps Transfer

Similarfashion with bipolar pectoralis

transfer
Good ROM arc and no flexion contracture

-reported by Van Heest el al

hypoplastic in some cases of
arthrogryposis
Literature review of all technique
Capsular release and triceps
lengthening
Triceps to biceps transfer
Pectoralis transfer
Steindler flexorplasty
Arthrogryposis
Wrist and hand
 Classical
symmetric
features
positioning of the limbs
wrist flexion, and hand ulnar
deviation
digits are postured in flexion and
are stiff
contracted clasped thumb
devoid of skin creases, muscle
wasting, paucity of skin crease
Treatment
Non surgical management
!
passive movement of all involved joints

!
Static progressive splinting and prolonged
stretch
Surgical treatment
timing of surgery
proximal row carpectomy
dorsal wedge osteotomy of the distal
radius or mid-carpus,
soft tissue distraction
arthrodesis
Dorsal Carpal Wedge
Osteotomy in
theArthrogrypotic Wrist

Ann E. Van Heest, MD, Rudy

Rodriguez, MDJ Hand Surg
2013;38A:265270. Copyright
2013 by the American Society for
Surgery of the Hand
Surgical technique
Ezaki and Carter
A dorsal wedge osteotomy at the level of
the midcarpus
!
place with 2 cross K-wires
!
May be coupled with tendon transfer,
ECU, ECRB
After surgery
The limb is immobilized in a long arm splint
for 6 weeks
!
The osteotomy site is protected with
intermittent wearing of a splint for a
minimum of 3 months
 95

Arthrogryposis
describe position of limb
single or multiple joints
distal or proximal involvement or both
presence of webbing, joint crease, muscle
bulk
look for associated syndrome eg beals,
freeman- sheldon, etc by checking for
archnodactyly, ocular involvement,
whistling facies
Conclusion
Identify the problem
Think of non surgical management first

!
Surgical treatment come last
Thank you