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C L I n I C A L A rT I C L e

Arthrogryposis multiplex
congenita of the upper limb
Dr DPVermaak MBChB(Pret), MSc Sports Medicine(Pret), MMed Orth(UFS)
Department of Orthopaedics, University of the Free State, National Hospital, Bloemfontein
Currently working at the Royal Gwent Hospital, Newport, Wales as an Arthroplasty Fellow, Department of Orthopaedics

Reprint requests:
Dr DP Vermaak
E-mail: duwaynev@yahoo.com
Tel: +27 76 819 7799 (South Africa), +44 750 182 3130 (UK)

Introduction
The name arthrogryposis is derived from the Greek and means stiff joints (arthron = joint and grypos = stiff).
Arthrogryposis represents a large group of disorders that present with joint contractures at birth. These congen-
ital contracture syndromes total over 65 conditions with different clinical courses and pathological processes.
Contracture syndrome groups can be divided into the following:
Group involving all four extremities includes arthrogryposis multiplex congenita (AMC) and Larsen syn-
drome, usually with total body involvement.
Distal arthrogryposis group predominantly or exclusively involving the hands and feet. Freeman-Sheldon
whistling face is an example in this group.
Pterygia syndromes identifiable skin webs cross the flexion aspects of knees, elbows and other joints.
Multiple pterygias and popliteal pterygia belong to this group.

Key words: Arthrogryposis multiplex congenita, upper limb

Arthrogryposis multiplex congenita Muscle mass is reduced, with infiltration of fibrous and
fibrofatty tissue between muscle fibres.2 Periarticular
(AMC) fibrosis causes a fibrous ankylosis of joints.
AMC was initially described by Otto in 1841, who Sensation is normal.
declared that his patient was a human wonder with There is no progression of the condition after birth but
curved limbs. There is no race or gender predilection. The secondary changes occur with growth.
incidence is 1 in 5 to10000 live births and the disease does Joint deformities are due to secondary changes from a
not directly affect the life expectancy of the patient. AMC lack of joint movement.
has the following characteristics: The patient learns adaptive movements to compensate
The full clinical expression is present at birth (con- for loss of normal function.
genital).
There is usually symmetrical involvement of multiple
joints and muscles. Aetiology
There is usually no involvement of other systems, e.g. The exact aetiology of the disease is uncertain. The most
heart, brain, skeleton, GI tract or urogenital tract. likely cause is damage to the anterior horn cells of the spinal
The intellect is normal. cord in the developing foetus (Swaiman and Wright, 1994).3
It is not inherited; Mennen and Williams (1996) pre- The suggested cause(s) may include direct damage by a viral
sented a case report of AMC in a monozygotic twin.1 infection, e.g. herpes simplex, or indirectly by an increase in
It is not due to an embryologic malformation (not temperature due to the infection, placental insufficiency or
abnormal induction). a stress reaction in a foetus carrying malignant hyperther-
Anterior horn cell numbers are decreased in the spinal mia-associated myopathy. Cross-circulation with disturbed
cord without an increase in microglial cells. foetal thermodynamics may also be implicated.
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Classification 46 III Moderate mobility

This classification system is based on the amount of ante- A) Both UL and LL involvement (i.e. UL and LL
rior horn cell damage and the resultant degree of stiffness involvement)
due to muscle under-development. Mennen (1993)3 sug- B) Minimal or no LL involvement (i.e. UL
gested that pre- and post-operative clinical evaluation involvement)
could divide patients into the following groups: C) Minimal or no UL involvement (i.e. LL
Type I: Loose type has little involvement of anterior involvement)
horn cells and good functional prognosis. The limbs
appear normal and these patients will have little diffi- 68 IV Near normal mobility
culty in walking. Their deformities are correctable A) Both UL and LL involvement (i.e. UL and LL
pre-operatively and spinal muscles are not involved. involvement)
Secondary surgical procedures are rarely indicated. B) Minimal or no LL involvement (i.e. UL
Type II: Stiff type has very little pre-operative joint involvement)
movement. The patients spinal muscles are involved C) Minimal or no UL involvement (i.e. LL
which affects their ability to sit and stand. They pres- involvement)
ent with severe club foot deformities, and hip and
knee subluxation or dislocation. There are very few if 810 V Mobile/normal
any muscle fibres found intra-operatively. Joint cap- A) Both UL and LL involvement (i.e. UL and LL
sules are thick and contracted, often with intra-articu- involvement)
lar adhesions and secondary joint deformity. B) Minimal or no LL involvement (i.e. UL
A new classification system has been proposed by involvement)
Mennen (2004)4 that takes the function and age of the C) Minimal or no UL involvement (i.e. LL
patient into account. Passive movement (baby), active involvement)
movement (young child) and function (older child and
adult) are assessed; function is calculated from the ranges Clinical features
of movement (active and passive) and the ability to exe- The limbs are stiff in varying degrees and appear tubular
cute activities of daily living with a specific joint. These with smooth skin over joints and absence of normal skin
values are expressed as a percentage of normal and plotted folds. Deep dimples may be seen over the large joints. The
on a disc-o-gram, thereby creating an image of total body muscles are reduced in size and feel firmer than normal.
function. Any change in function from therapy or surgery The shoulders are adducted and internally rotated with
can be plotted on the same disc-o-gram and will thereby weak or absent shoulder girdle muscles. The arms may be
change the shape and size of the image of function. in such severe internal rotation that the hands may only
The patients are classified into five types by adding up be used in pronation. The elbows are more often in exten-
the values of joint movement or functional ability. These sion than flexion, with weak or absent biceps and
groups are further divided up into three subsections brachialis muscles, while the triceps is less affected. Wrists
depending on the pattern of limb involvement: are usually pronated, in severe flexion and ulnar devia-
tion, lacking wrist extension. The thumbs are adducted
02 I Rigid across the palms (thumb-in-palm deformity) and the fin-
A) Both upper limb (UL) and lower limb (LL) gers are flexed and rigid. The finger deformities usually
involvement (i.e. UL and LL involvement) involve rigid flexion at the IP joints and neutral to exten-
B) Minimal or no LL involvement (i.e. UL sion position of the MP joints. The fingers are often over-
involvement) lapped and with slight flexion in a paw position.
C) Minimal or no UL involvement (i.e. LL Patients with AMC are usually pain-free. Complaints
involvement) that may be present are inguinal hernias due to weakened
musculature, or feeding problems due to a stiff jaw and
24 II Minimal mobility immobile tongue that can lead to respiratory infections
A) Both UL and LL involvement (i.e. UL and LL and a failure to thrive. The face is not particularly dys-
involvement) morphic, but may demonstrate a small jaw, facial narrow-
B) Minimal or no LL involvement (i.e. UL ing and, if the ocular muscles are involved, a limited
involvement) upward gaze.
C) Minimal or no UL involvement (i.e. LL Two-thirds of patients have equal involvement of all four
involvement) limbs, and in one-third lower limb involvement (club feet,
flexion deformity of the knee and subluxed or dislocated
A new classification system has been proposed by hips) will predominate. Upper limb involvement rarely
Mennen (2004) that takes the function and age of the predominates. When spinal muscles are involved the child
patient into account has difficulty with sitting and standing up.
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Up to one-third of patients will develop scoliosis. The Chair and tables these will often need adjustment for
joints appear normal on X-ray, and the changes are adaptive feeding and playing.
and acquired over a period of time due to the joints fixed Eating and drinking it may be necessary to fix the
position. plate to the table and adjust the handles of eating uten-
The diagnosis of AMC is clinical, but it may be suspected sils.
if the prenatal ultrasound demonstrates a decrease in foetal Dressing Velcro can replace buttons, and zips can be
movements, especially in combination with polyhydram- fitted with large ring handles. Dressing may further be
nios. Some contractures seem to become stiffer over time assisted by using shoes without laces and sticks to
but no new joints become involved. assist with the activity of getting dressed.
AMC patients may develop compensatory movements to Toilet needs self-cleaning toilets are available, but are
assist activities of daily living such as pushing the forearm expensive and will only be available in the home envi-
against a table to bring the hand close to the mouth to eat, or ronment. The height of toilet seats may also need to be
if the patients are standing they may reach their face by adjusted at home to accommodate the patient.
swinging their arms and using lumbar spine lordosis and Showers may need to be fitted with seats and liquid
gravity to assist the movement. These patients may also soap dispensers.
assist themselves using a cross-arm technique.
Surgical management
Management Surgery is offered after 6 months if there is a failure to
When considering management of the upper limb the progress with conservative measures. Some of the princi-
whole arm must be taken into consideration and individ- ples of surgery (Mennen) are the following:
ual joints must not be isolated. The ultimate goal of sur- Early surgery. The ideal time for surgery is between
gery to the upper limb is to improve the patients self-care 36 months of age.5 Early surgery is easier, e.g. carpal
ability, especially eating and hygiene (writing is a bonus). bones can be removed with a scalpel. A younger child
recovers faster, with less scarring and has the ability to
Conservative management remodel joint surfaces. They are also more adaptable,
All upper limb deformities must be gently manipulated reducing the need for intensive physiotherapy after the
(muscle and joint stretching) from birth by a qualified procedure. In very young children the remnants of the
hand therapist with the best results achieved if started carpal bones left behind develop ossification centres,
before 6 months of age.3 Physiotherapy includes passive which will result in functional carpal bones.5 The sur-
manipulation several times a day followed by night-time gery becomes more difficult later, i.e. after 1 year, as
splinting of the position gained. The therapist may further contractures become more fixed and joint congruity
assist these children by teaching them trick movements to changes, limiting joint movement. Joint adhesions
achieve better function. Splinting a patient in a certain increase and the skin becomes less pliable adding to
position may allow the patient to decide if the new posi- the abnormal joint movement.
tion will be desirable or not before surgery is done. One-stage procedures. One-stage procedures give bet-
Deformity correction may be attempted by the following ter results than staged procedures5 and may include
measures: surgery to bones, joints and soft tissue rebalancing.
Intensive exercise programme usually only results in However, as the child grows, smaller procedures may
a slight improvement in ROM with the chances of suc- be needed to maintain optimum function.
cess declining with age, and little gain expected after 3 Osteotomies. Correction of deformity by osteotomy is
years of age.9 of limited value in young children as remodelling will
Serial casting this is time-consuming with a high cause recurrence of the deformity within 12 yrs.
rate of recurrence. If done too aggressively it may
cause cartilage necrosis and further stiffness. Smith Management of the hand and
and Drennan recommended the use of serial casting
for wrist flexion deformities,10 but did show that the
wrist in AMC
The wrist is almost always affected with a flexion defor-
classical form of arthrogryposis with rigid wrist defor-
mity of up to 90 and ulnar deviation. It is widely agreed
mities was resistant to serial casting. Some feel that
that correction of the hand and wrist deformity will
serial casting may lessen the extent of surgery, even
improve the overall function of the upper limb.
though the deformity is not completely corrected.6
Repeat casting is unlikely to be successful if recur-
rence of the deformity occurs.
If no further correction can be achieved by conservative The ultimate goal of surgery to the upper limb
or surgical means then the patient will benefit from mod- is to improve the patients self-care ability, especially eating
ification of mechanical aids. The following are some and hygiene (writing is a bonus)
examples:
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Carpectomy Thumb adduction

This procedure was met with mixed results according to The thumb-in-palm deformity is the result of a combined
earlier literature,12 but when performed early (36 thumb adduction and first MCP joint flexion contractures
months) and in combination with soft tissue balancing as and prevents the hand from grasping normally. If the
part of a one-stage procedure it has shown promising out- thumb fails to correct with passive and dynamic first web
comes.3,5 When the carpectomy is performed before ossi- space manipulation, then a thumb adduction release is
fication of the carpal bones it has the following advan- indicated which may need to be combined with an oppo-
tages: nensplasty.3 The flexor pollicis longus musculotendinous
The unossified carpal bones allow the surgeon to complex is also released to achieve adequate correction.
sculpt a wedge-shaped removal of cartilaginous bones Williams recommended a combined first web space
with a scalpel. release with transfer of a superficial flexor tendon (usual-
The exact anatomy of the carpal bones can be ignored ly the ring fingers superficial tendon) dorsally to replace
and the surgeon only needs to focus on removing a the typically absent thumb extensors and abductor.
clearly defined trapezoid wedge from the carpal Drummond et al. suggested a Z-plasty for the first web
bones. space and release of adductor pollicis with or without MPJ
In milder forms of the disease the trapezoid should be fusion.11
removed from the mid-section of the carpus, leaving the
radio-carpal joint intact. The carpus is not only shortened Finger stiffness
by the trapezoid wedge, but the following is of impor- Improvement in ROM is seen with gentle manipulation. It
tance: is also noted that if the wrist is placed in 40 of dorsiflex-
The volar portion of the trapezoid wedge relaxes the ion before 12 months of age the finger and metacar-
volar capsule and the other soft tissues, e.g. neurovas- pophalangeal joints are more mobile and normal skin
cular structures. When the flexor tendons are relaxed, folds over the joints can develop.3 Occasionally contrac-
it allows the fingers to assume a more functional posi- tures may need to be released and skin grafted. Williams
tion. described an intrinsic release for patients with MP joint
The dorsal portion of the trapezoid wedge helps cor- flexion contracture and extension of the IP joints. If the IP
rect the wrist flexion deformity. The size of the wedge joints have an extension contracture then a dorsal release
is determined by the need to achieve 40 of dorsiflex- can be done with a flexor tendon shortening.11
ion; the wrist is then fixed with K-wires. In severe After correction of wrist and hand deformities the patient
cases almost all the carpal bones may need to be is usually splinted in a functional position until skeletal
included in the wedge and rarely the base of the sec- maturity.
ond to fifth metacarpals.
Management of the elbow in AMC
Soft tissue balancing Elbow flexion is particularly important in these patients in
The wrists dorsal capsule is incised transversely before order to achieve independent function in feeding and care
the carpectomy. These flaps are then sutured tightly of the face and hair. Extension of the elbow is required for
overlapping each other. The wrist flexors flexor carpi toilet and transfers if the lower limbs are severely affected.
ulnaris (FCU), flexor carpi radialis (FCR) and palmaris Ideally one arm (dominant arm) should be able to func-
longus are transferred to the dorsal side to augment the tion in flexion to perform feeding activities, and one arm
dorsal pull on the metacarpals. The FCU and/or FCR should be able to function in extension for hygiene pur-
are sutured to the extensor carpi radialis brevis (ECRB) poses.
or to the distal capsular flap. Z-lengthening of these Goals of treatment are to achieve at least 90 flexion
flexors may be necessary in order to achieve this. from a fixed extended position. If both elbows are equally
Wrist extensors may be poorly developed, but extensor involved, surgery to increase flexion should only be done
carpi ulnaris (ECU) can be centralised to compensate on the one side.
for weak wrist extension.
Mennen recommends the sequence of carpectomy fol-
Elbow flexorplasty
lowed by internal pinning, then performing the capsular
Arthrolysis and capsular release are indicated if passive
suturing and finally doing the flexor tendon transfer to
manipulation has not achieved more than 90 of elbow flex-
protect the volar neurovascular structures, which may
ion by 6 months of age. The triceps can be lengthened by a
be tensioned unnecessarily if another sequence is fol-
Z- or V-Y lengthening procedure if necessary. If active
lowed.3
elbow flexion is lacking the surgeon will need to do a flexor-
Older patients or patients with recurrence of their
plasty at the same time as the joint release procedure, bear-
deformity may benefit from wrist arthrodesis as a sal-
ing in mind that passive elbow flexion to 90 is a prerequi-
vage procedure to achieve a more functional position of
site. Various options are available for an elbow flexorplasty:
their wrist.
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Steindler flexor origin transfer The flexor origin is In the older patient an elbow arthrodesis (Kelikian) or an
released from the medial epicondyle and transposed anterior closing wedge osteotomy of the distal humerus
proximally and anteriorly on the humerus. It is seldom may be used to place the patients limited arc of motion in
recommended in AMC as the flexor muscles are short- a more functional position.
ened, fibrotic and have poor excursion and may further If the radial head is dislocated it should not be excised
tighten wrist and finger flexors in a patient with existing until growth is completed to prevent a progressive cubitus
wrist and finger flexor contractures. The flexor group of valgus or tardy ulnar nerve palsy developing.
muscles is also too weak to achieve active elbow flexion.
Clark pectoralis major muscle transfer: Here 2 inches Management of the shoulder in AMC
of the sternal head of pectoralis major is detached, tubed Management of the shoulder is seldom needed in AMC as
and attached to the biceps tendon at the elbow. it usually functions satisfactorily without treatment.
Schottstaedt, Larsen and Bost modified the technique by Flexion and abduction (active and passive) are usually suf-
detaching the entire sternal head of pectoralis major. ficient to allow the patient to reach the mouth or per-
The muscle is completely mobilised on its neurovascular ineum. If the shoulders are in severe internal rotation the
pedicle, the muscle insertion reattached to the acromion hand function may be limited and forced to function in a
process and the sternal origin to the biceps tendon or the back-to-back fashion or crossover style to hold objects.
radius with rectus fascia. The muscle is seldom func- Toilet usage may be a problem as the dorsum of the hand
tional but occasionally it may be powerful enough for presents to the perineum, and walking may be restricted
elbow flexion.3 by inability to grasp crutches or a walking frame.
Latissimus dorsi muscle transfer (Hovnanian): The ori- If the hands can be made functional enough an external
gin of latissimus dorsi is detached and the muscle belly rotation osteotomy of either the proximal or distal
mobilised on the long thoracodorsal nerve, passing it humerus can be performed.
subcutaneously down the anterior aspect of the arm and
suturing it to the biceps tendon. Like pectoralis major
this muscle is often non-functional in AMC but if it is Prognosis
available it is the best option for elbow flexion.3 The skin folds develop over joints as soon as movement
Triceps tendon transfer: This is a viable option for ten- around that joint starts. Mennen5 reported the expected
don transfer to achieve elbow flexion if the triceps functional improvement around joints, after early one-
muscle strength is at least a grade 4/5. The technique stage corrective surgery (before 1 year) in 47 limbs oper-
of Carroll and Hill involves detaching the triceps ated:
aponeurosis and periosteum from the olecranon and
proximal ulna, which is passed subcutaneously Elbow: 30100 flexion (average of 49 degrees)
around the lateral aspect of the elbow and attached to Wrist: 10 flexion 30 extension (average 27
the proximal radius or biceps tendon. The disadvan- degrees active motion)
tage of the procedure is that if an undesirable flexion Fingers: MCPJ: 20-85 flexion (average 65
contracture of the elbow is created, it will be nearly degrees active flexion)
impossible to correct. If a flexed elbow of more than PIPJ: 20-80 flexion (average 45 active flexion)
90 occurs in one arm and the other arm is in exten- DIPJ: 15-35 flexion (average 20 active flexion)
sion, the patient loses the ability to transfer objects
from one hand to the other, losing the bimanual func- Conclusion
tion. A flexed elbow has the functional advantage of To achieve the best results for this complex condition of
being able to reach the mouth and the perineum and the upper limb, manipulation of deformities is recom-
performing most other activities of daily living. A gut- mended as soon as possible after birth. If surgery is
ter crutch may also be used if the patient has difficul- required to gain function then it should be done as an
ty with walking and stability. early one-stage procedure between the ages of 3 months to
Van Heest et al. demonstrated that elbow capsulotomy 1 year.
and triceps lengthening alone without tendon transfer
improved passive elbow flexion and the arc of elbow
motion to enable hand-to-mouth activities.7 Twenty-
nine elbows were operated in 23 children and an average
of 33 of passive motion was achieved, changing the arc
of motion to a more flexed position. The authors felt that
the risk of tendon transfer after capsulotomy may out-
weigh the benefits if the patient could achieve function- No benefits in any form have been received or will be
al independence by other means such as compensatory received from a commercial party related directly or indi-
movements. rectly to the subject of this article.
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