This patient, Aaaliya, presented with arthrogryposis multiplex congenital (AMC), a nonprogressive congenital disorder causing multiple rigid joints and limited motion. She had inversion of both feet, limited knee flexion, and deformities of both lower limbs. AMC is diagnosed based on clinical features and imaging. While the cause is often idiopathic, it can be due to antibodies against fetal muscle receptors. Treatment involves rehabilitation, serial casting/splinting, orthotics, and surgery to correct musculoskeletal deformities, with the goals of independent ambulation and functional upper limb use. The patient underwent multiple surgeries and procedures over several years to address her clubfoot, knee dislocations,
2. • A girl named Aaaliya o presented to us opd in
August 2013, when she was one and half years
of old.Her mother was complaining about
obvious deformity of both lower limbs.
• On examination the child was unable to stand
on her legs and there was inversion of both
feet.Flexion of both knees was limited.
• X-rays of pelvis,knees and foot were ordererd.
3. • What is problem with this child?
• How to diagnose and manage this condition?
• What is the prognosis?
4. Patient is suffering from arthrogryposis
multiplex congenital AMC
Term Arthrogryposis derived from Greek means
‘bent joint’.
Arthrogryposis Multiplex Congenital term coined by
WG Stern in 1923
Other terms were amyoplasia congenita and
congenital arthromyodysplasia
5. • Term arthrogryposis denotes nonprogressive
congenital disorder involving multiple rigid
joints leading to severe limitation in motion
• INCIDENCE
• 1 in 3000 live births
• More common in males 2:1
6. • Hall’s classification of AMC
• 3 types
1.primarily limb involvement
2.limb involvement with other systems
(Hemangioma, inguinal hernia or gastroschisis,
abnormalities of the reproductive system).
3.limb with CNS involvement
7. • Etiology
• Idiopathic
• Some mothers have antibodies against fetal
acetylcholine receptors leading to decreased
number of anterior horn cells
8. • Clinical features
• A=absence myo=muscles
dysplasia=development (absence of muscle
development)
• It is a multiple joint contracture syndrome
• Usually has symmetrical involvement of joints
• CNS function is normal (except third type)
• Muscle tissue is replaced by fatty and fibrous
tissue
9. • Upper limb features
• Shoulder is adducted and internally rotated
• Deltoid function is deficient
• Elbow has deficient brachialis and biceps
brachii fuction,resulting in deficient elbow
flexion
• Elbow joint is cylindrical and lacks skin
creases.
10. • Characteristic palmar flexion contracture with
ulnar deviation and pronation of hand
• Flexion contractures of interphalangeal
joints(most common).
• Thumb is usually adducted. Finger contractures
are usually stiff and most patients have significant
deficiency of active finger movements
• In syndromic arthrogryposis “clenched fist” with
“thumb in palm” deformities may be observed.
11.
12. Lower limb
Mostly flexion, abduction, and external
rotation contractures of varying degrees of
severity. Unilateral or bilateral hip dislocation
is observed in approximately 1/3 of patients.
The most common deformity is flexion
contracture of varying severity, Flexion
contracture is usually associated with weak
quadriceps and a “dimple” over the patella.
13. • An extension contracture is less commonly
observed and may be accompanied by knee
dislocation.
• These deformities of ankle are observed in
nearly all arthrogryposis patients.
• Severe talipes equinovarus (most common).
Less frequently vertical talus observed.
• Abnormal curvatures of spine in
approximately 28% to 67% of patients
14.
15.
16. • Investigation and treatment
• Imaging Studies
• Radiographs,Ultrasonography,CT scan n MRI
• Other Tests
Muscle biopsy Distinguish myopathic from
neuropathic conditions , Electromyography
(EMG) ,Nerve conduction tests investigation
and treatment.
17. • Treatment
• This comprehensive approach is based on a triad of
treatment tools:
• Firstly, rehabilitation including physiotherapy,
manipulation of contractures, and later social and
occupational rehabilitation.
• Secondly, individually tailored orthotic management,
whether for maintenance or correction of joint
mobility, and for prevention of recurrent deformities.
• Thirdly, a broad spectrum of surgical techniques for
correction of musculoskeletal deformities, typically
found in congenital contractures
18. • Rehablitation and Physiotherapy
• The parents of a child with arthrogryposisoften place the
greatest importance on independent ambulation and
concentrate their attention on this ability in the treatment
program.
• It is therefore extremely important that the treatment plan
and its objectives – both immediate and long-term –be
communicated to both the patient and the parents.
• At birth Gentle stretching and ROM exercises Passive
stretching exercise followed by serial splinting with custom
made thermoplastic splints
19. • Existing joint motion to be preserved and
placed in most functional position
• Stiff joints placed for functional advantage
• 2 major goals
• Plantigrade standing and walking
• Restoring function of upper limb to carry
out daily living activities
20. • Surgical Management
• Outcomes better if joint surgery is done early,
before adaptive intraarticular changes
Osteotomies are usually performed closer to
the completion of growth.
• Knee and hip surgery –around 6 to 9 months
Foot surgery –when patient starts standing
21. Coming back towards our patient
She had bilateral clubfoot,bilateral congenital
knee dislocation CKD,and bilateral DDH.
Her both upper limbs were fine
she was operated multiple times for her
deformities
22. • In September 2013 left PMR for clubfoot was
done
• In December 2013 left knee was
operated(open reduction and cast application)
• March 2014 right DDH surgery was performed
• On June 2014 left DDH was operated with
right CKD
• March 2015 bilateral tenotomy and casting
was for clubfoot.
23. • May 2018 right foot triple arthodesis was
performed
• On Feb. 2019 triple arthodesis of left foot was
done.
• All of these surgeries are performed in
Orthopaedics unit of ATH by Dr Alamzeb Khan
Swati.
24. • Here are her recent photos along with X RAYS
