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1. PHYSIOTHERAPY MANAGEMENT IN
ARTHROGRYPOSIS MULTIPLEX
CONGENITA
BY
EMUH BENEDICT .L.
IHEANAETU CHINEMEREM .B.
ILOZUMBA JENNIFER .C.
Presented At The Department Of Physiotherapy, Lagos
University Teaching Hospital, Idi-Araba, Lagos.
SEPTEMBER, 2019.

2. TABLE OF CONTENT
• Introduction
• Prevalence
• Pathophysiology
• Etiology
• Forms of Arthrogryposis
• Clinical Presentations
• Diagnosis
• Differential Diagnosis

3. • Medical Management
• Physiotherapy Management
• Case Report
• Prognosis

4. Introduction
• Arthrogryposis is derived from two Greek words
(“arthron” – joint and gryposis” – curvature).
• Arthrogryposis Multiplex Congenita is a rare, non-
progressive congenital condition characterized by
contractures at multiple joints (hands, feet, hips,
knees, elbows, shoulders, wrists, fingers, toes, the
jaw and the spine).
• Arthrogryposis Multiplex Congenita (AMC) causes
new-borns to have stiff, crooked, and contracted
joints at birth resulting in a loss of range of motion in
more than one joint.

5. • This lack of joint mobility is often
accompanied by fibrous ankylosis, which is an
overgrowth or proliferation of tissue in the
joint. (AMC Support, 2016)

6. Prevalence
• Arthrogryposis affects roughly 1 in every 3,000
individuals.
• The condition affects males and females equally
throughout its population. (Bamshad et al, 2009).
• Arthrogryposis is more common in isolated
populations such as Finland and the Bedouin
community in Israel. (Latinen and Hirvensalo,
1966).
• No racial predilection has been found.

7. • Congenital clubfoot is the most common
single contracture and its prevalence is one in
500 live births.(Hall, 1997).
• In Nigeria, the condition affects
approximately 1 in 2–10,000 live births, with
no sex predilection. (Garba et al, 2017).

8. Bamshad et al, 2009

9. Etiology
• The exact cause of arthrogryposis is unknown
yet.
• It is believed that the condition begins during
the first trimester of pregnancy.
• Arthrogryposis is presumed to be multifactorial
in etiology. (Bevan et al, 2007).
• The major cause is fetal akinesia (reduced fetal
movement), but this is disputed lately
(Kalompokas et al, 2012).

10. • In about 30% of the cases, a genetic cause is
identified (Alves et al, 2007).
• Research has shown that there are more than
35 specific genetic disorders associated with
arthrogryposis.
• Dystrophy, myopathy, myositis
and mitochondrial disorders may also be
responsible for arthrogryposis (Kalompokas et
al, 2012).
• Neurologic abnormalities are the most
common cause of arthrogryposis.

11. These abnormalities include:
• Meningomyelocele
• Anencephaly
• Hydranencephaly
• Holoprosencephaly
• Spinal muscular atrophy
• Cerebrooculofacial-skeletal syndrome
• Marden-Walker syndrome(Kalompokas et al,
2012).

12. Pathophysiology
• During early embryogenesis, joint development is
almost always normal.
• Motion is essential for the normal development
of joints and their contiguous structures.
• Lack of fetal movement causes extra connective
tissue to develop around the joint.
• This results in fixation of the joint, limiting
movement and further aggravating the joint
contracture.

13. • Contractures secondary to fetal akinesia are
more severe in patients in whom the diagnosis
is made early in pregnancy and in those who
experience akinesia for longer periods of time
during gestation. (Mithilesh, 2019).

14. Forms of Arthrogryposis
• Amyoplasia (Classical Arthrogryposis)
• Distal Arthrogryposis. (Bamshad et al, 2009)

15. Amyoplasia
• The shoulders are internally rotated and
adducted.
• The elbows are extended
• Wrist flexed and ulnarly deviated.
• Fingers are stiff and thumb is positioned in the
palm.
• Hips are dislocated.
• Knees may be extended
• Feets have severe equinovarus deformities.
(Bamshad et al, 2009).

16. • 10% of patients have abdominal abnormalties
such as gastroschisis (intestines found outside the
abdomen) and bowel atresia (complete
obstruction of intestinal lumen). (Hall et al, 2009).
• 84% of the children have symmetric involvement
of the upper and lower limbs; other variations of
presentation include upper limb only, lower limb
only, or asymmetric patterns of involvement.
(Vanpaemel et al, 1997).
• Nearly all cases are sporadic (Bamshad et al,
2009).

17. Bamshad et al, 2009

18. Distal Arthrogryposis
• Distal arthrogryposes are a group of
autosomal dominant disorders that mainly
involve the distal parts of the limbs. (Bamshad
et al, 2009).
• The distal arthrogryposes are characterized by
congenital contractures of two or more
different body areas without a primary
neurological and/or muscle disease. (Bamshad
et al, 1996).

19. For the upper limb, major diagnostic criteria
include:
• Camptodactyly or pseudocamptodactyly
(limited passive proximal interphalangeal joint
extension with hyperextension of the wrist).
• Hypoplastic and/or absent flexion creases.
• Overriding fingers.
• Ulnar deviation at the wrist. (Bamshad et al,
1996).

20. For the lower limbs, major diagnostic criteria
includes
• Talipes equinovarus
• Calcaneovalgus deformities.
• Vertical talus and/or metatarsus varus.
To be considered affected, an individual must
exhibit two or more of these major criteria, but
when a first-degree family member (i.e., a parent
or a sibling) meets these diagnostic criteria,
other family members with at least one major
diagnostic criterion are considered affected.
(Bamshad et al, 1996).

21. Kalampokas et al, 2012

22. Clinical Presentations
• Decreased or absent movement around small and
large joints due to contractures
• Muscles of affected limbs are underdeveloped
with decreased strength and bulk
• Long bones of the arms and legs are fragile
• Abnormally slender build
• Cleft palate
• Cognition may or may not be affected
• ⅓ of babies affected have structural or functional
abnormalities of the CNS. (Hall, 2016).

24. Associated Co-morbidities
The following are co-morbidities associated with
arthrogryposis:
• Cryptorchidism (Undescended testis).
• Dysphagia with aspiration was the single most
important cause of death in approximately 20%
of patients with Arthrogryposis (Cohen and
Isaacs, 1976).
• Respiratory problems due thoracic deformity,
neurogenic muscular atrophy, myopathy
• Congenital Heart Defect. (Kalampokas et al,
2012).

25. Diagnosis
• The diagnosis of AMC is most heavily founded
based on the clinical examination and evaluation
using characteristic symptoms and a detailed
patient history.
• 4D Ultrasound: An ultrasound can help check for
an abnormal position and decreased fetal
movement in the uterus, a common cause of
Arthrogryposis.
• Nerve conduction, electromyography and muscle
biopsy can help to determine the underlying
cause by diagnosing myopathic or neuropathic
disorders.

26. Differential Diagnosis
• Beals syndrome
• Multiple pterygium syndrome
• Osteochondrodysplasias
• Moebius Syndrome.
• Poland Syndrome
• Mietens syndrome
• Zellweger syndrome
• Spinal dysraphism
• Meckel syndrome
• Turner syndrome
• Bowen-Conradi syndrome

27. Medical Management
• Orthopaedic surgeries is indicated for joint
contractures resistant to stretching and splinting.
• Surgical intervention may include osteotomy
(bone cut) and tendon/ muscle lengthening.
• If the child have muscular limitation, tendon
transfers is performed to improve the length
tension relationship and the mechanics of the
specific muscle.
• A tenotomy is performed to release the joint
from the pull of the tendon when it is causing the
joint to be held in an abnormal position.

28. • Talectomy is performed when the patient
presents with equinovarus.
• Soft tissue surgery, such as bone and tendon
transfers, should be done early in life (ages 3-
12 months).
• Other procedures including osteotomies
should be performed later in life when the
growth of that joint is near completed. (AMC
Support, 2016).

29. Physiotherapy Management
Goals of physiotherapy
• Promote functional independence.
• Improve range of motion
• Prevent further atrophy of muscles.

30. Means of Management
• Aquatic therapy. (AMC Support, 2016).
• Serial casting of contracted joints (Perajit et al,
2014).
• Gentle joint manipulation (Hall, 2016)
• Ambulation either independently or with an
assistive device.
• Dynamic strengthening of the trunk
• Stretching of joint and muscle contractures
(Kimber, 2015).
• Strengthening the patient’s muscles, specifically
the hip extensors, quadriceps, and shoulder
depressors (Perajit et al, 2014).

31. Specifically, management for pediatric patients
may involve:
• Foot abduction braces
• Standing in a standing frames
• Position activities such as stretching the hip
flexors and prone positioning
• Thermoplastic serial splinting
• Training gross motor skills (rolling, sitting,
crawling, standing, walking). (AMC Support,
2016).

32. Case Report
Past Medical History
• A 2-day-old male term neonate presented with a
history of multiple contractures in all limbs since
birth, fever, and vomiting of 1 day duration.
• No identifiable risk factor for arthrogryposis or
maternal risk factors of sepsis.
• He was delivered after an uneventful pregnancy
and said to have cried immediately after birth.

33. Family History
• He is the fourth child of his parents in a
nonconsanguineous marriage.
• Both parents are healthy and young, mother is
25-year-old while father is 32-year-old.
• First two siblings were normal but third sibling,
a male child had similar multiple contractures
in all limbs and died a few days after birth.
• A maternal aunt had a similar male child with
multiple contractures of all limbs who also
died a few days after birth.

34. • No history of similar abnormalities in other
family members.
Physical Examination
• On examination, he was febrile (axillary
temperature 38.2°C)
• Had unusually shaped ears and multiple
contractures in all the limbs.
• There was internal rotation at the shoulders,
flexion at both elbow joints, right wrist joint,
and metacarpal joints of both hands.

35. • There was also internal rotation with extension
of both hip joints, external rotation and
extension of the left leg, fixed left knee,
bilateral talipes equinovarus, genu varus of the
right leg and polydactyl of both hands.
• There was no murmur detected and no obvious
neurological deficit.
Diagnostic Tests
• Full blood count result was suggestive of
sepsis, however, no growth on blood culture.
• Urea and electrolytes were normal. Cranial and
abdominal ultrasounds were normal.

36. • Echocardiography, electroencephalogram,
muscle biopsy, and cytogenetic studies could
not be done as these are not available in the
hospital.
Patient Management
• He was managed with antibiotics (ceftazidime
and gentamicin).
• The plaster of Paris (POP) cast was applied on
both lower limbs after orthopedic surgeon
reviewed him.
• The limbs still assumed their fixed position
after the application of the POP cast.

37. • He did well and was discharged after 3 weeks
to be followed up at the neonatology and
orthopedic clinic.
• He did not return for follow-up and said to
have died at home at the age of 10 weeks
from an unknown cause.
• Parents could have benefited from genetic
counseling. However, this is also not carried
out in our hospital although the risk of
recurrence was explained to them. (Garba et
al, 2017).

38. Garba et al, 2017

40. Prognosis
• About 50% of infants that have contractures
alongside a central nervous system
dysfunction experience mortality in their first
year of life. (AMC Support, 2016).
• With proper physiotherapy treatment,
patient’s functionality can be improved upon
• The joint contractures that are present will not
get worse than they are at the time of birth.
(Wikipedia, 2017).

41. THANK YOU

42. References
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• Perajit E, Kamolporn K, Ekasame V. Walking ability in
patients with arthrogryposis multiplex congenita. Indian
Journal Of Orthopaedics. 2014; 48(4): 421-425.
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Springer Link. Journal of Children's Orthopaedics; 2015.
Available
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• Laitinen O, Hirvensalo M. Arthrogryposis multiplex
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