SPMRJ. Volume 5 No. 1 February 2023 DOI: 10.20473/spmrj.v5i1.

30245
SINTA 5 (Decree No: 200/M/KPT/2020) Available online at https://e-journal.unair.ac.id/SPMRJ

Case Report

Arthrogryposis Multiplex Congenita (AMC): Functional Improvement of a

Seven-Year-Old Girl after 3 Years of Physical Medical Rehabilitation
Intervention

Naela Munawaroh1* , Rahmi Isma Asmara Putri1

1Faculty of Medicine, Universitas Diponegoro, Semarang, Central Java, Indonesia

*Corresponding Author:
Naela Munawaroh, Faculty of Medicine, Universitas Diponegoro, Semarang, Central Java, Indonesia.
E-mail: [email protected]

Article info: ABSTRACT

Received: September Arthrogryposis multiplex congenita (AMC) is a genetic disease
24th 2021; typified by non-progressive and multiple congenital limb
Received in revised: contractures. The incidence of AMC is 1 in 3,000 live births,
October 5th 2022; occurring in two or more areas of the body. The etiology of the
Accepted: October 17th syndrome is largely unknown and is multifactorial. The aim of this
2022; article is to report a patient diagnosed with arthrogryposis
Published: February multiplex congenita who received physical medical rehabilitation
17 th 2023.
intervention. We report a seven-year-old girl who frequently had
This is an open access symptoms of joint deformities, movement limitation, and walking
article under the CC- difficulties. The patient's fingers and toes also had muscle
BY license hypoplasia and pterygium. She was diagnosed with arthrogryposis
(https://creativecommo when she was born. Several surgical interventions had been
ns.org/licenses/by/4.0/) performed. Since four years old the patient started the physical
medical rehabilitation programs. Owing to the integrated
orthopedic and medical rehabilitation therapy, it showed some
improvements. The patient could walk by holding onto a bench and
eat or drink by herself. The patient had obtained the daily living
Cite this as: exercises using the correct compensation technique using modified
Munawaroh N, Isma
tools. Physical medical rehabilitation programs can improve the
A.P R. Arthrogryposis
Multiplex Congenita
functional condition of AMC patients. The goals of a physical
(AMC): Functional medical rehabilitation treatment are to gain the walking ability and
Improvement of a improve the ability to independently perform activities of daily
Seven-Year-Old Girl living. Stretching exercises, ROM exercises, splints, modified
after 3 Years of Physical tools, and orthopedic surgery are essential for arthrogryposis
Medical Rehabilitation patients.
Intervention. SPMRJ. Keywords: Arthrogryposis multiplex congenita, Physical medical
2023;5(1):39-43. rehabilitation, Surgery.

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 Surabaya Physical Medicine and Rehabilitation Journal, Vol. 5 No. 1, February 2023
Introduction which take a role in the contractile
Arthrogryposis multiplex congenita apparatus.5,9
(AMC) is a hereditary disorder characterized
by non-progressive multiple congenital limb Material & Method (Case Report)
contractures. This disease often improves Case Report
gradually with appropriate management.1 A seven-year-old girl was admitted to
AMC is usually a feature of the outpatient clinic with complaints of joint
neurodevelopmental abnormalities or deformities, movement limitation and
primary intrauterine muscle disease. walking difficulties. The patient was born
Arthrogryposis is a term for multiple with fractures of both femur necks, and three
contractures related to many different days later hip reconstruction surgery was
diseases. Specific prenatal diagnosis is hard performed at the Kariadi Hospital. She was
to be performed because more than 400 the first daughter of her family and had no
conditions are associated with these siblings. The multiple contractures of the
findings.2 joint were developed since she was born. As
The etiology of arthrogryposis a result, she was diagnosed with
syndrome is largely unknown and is arthrogryposis multiplex congenita (AMC)
multifactorial. Hall et al classified the causes with symmetrical shoulder, internal rotation
of AMC into neuropathic disorder, structural and adduction of the shoulder, lumbar
(muscle function) disorders, connective hyperlordosis, elbow extension, wrist
tissue disorders, space limitation disorders, flexion, and ulnar deviation.
maternal diseases, and disorders of
intrauterine or fetal vascularity.3,4 The Objectives
neuropathic disorder is associated with the The examination revealed generalized
loss of motor neurons due to changes in the muscle atrophy, weakness in the body,
spinal cord that lead to muscle atrophy. In elbows and knee semi-flexion, toes
addition, 95% of arthrogryposis is caused by pterygium, clubfoot deformities of both feet,
neuropathic disorders.5,6 When the joint is and mild scoliosis (Image. 1).
not moved for a long time, connective tissue
can grow around the joint. This mechanism
incurs the movement limitation. The
difficulty of joint motion can occur when the
tendons that connect to the joint do not
stretch to their proper length. The lack of
joint movement of the fetus in the initial
developmental stage can lead to collagen
proliferation, muscle fibrosis, and
thickening of the joint capsule.2,7
Several types of arthrogryposis are caused
by certain single-gene diseases (X-linked
inheritance, autosomal recessive or
autosomal dominant inheritance), metabolic
diseases, chromosomal aberrations,
microduplications, and microdeletions.4,8
Amyoplasia as the classic form of AMC is
usually sporadic. Arthrogryposis is common
in only one of the monozygotic twins.4
Distal arthrogryposis is probably inherited
by autosomal dominant. It is a specific
subgroup of disorders. AMC occurs with
phenotypic variation between families and
even between members of the same family.
The distal arthrogryposis syndrome is
caused by several different gene mutations,
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 Surabaya Physical Medicine and Rehabilitation Journal, Vol. 5 No. 1, February 2023
Image 1. There was generalized muscle atrophy, patient is around 18 years old. Since the age
weakness in the body, elbows and knee semi-flexion, of 3.5 years, the patient was referred to the
toes pterygium, clubfoot deformities of both feet,
mild scoliosis, and lumbar hyperlordosis Medical Rehabilitation doctor at Kariadi
Hospital. However, the patient did not come
In this case, all limbs are involved in regularly due to limitation of her mother’s
symmetrical patterns. Note the elbow’s job. From the age of four years, she began to
extension and contracture, the wrist’s regularly visit the doctor and joined the
flexion, and the ulna’s deformity. The routine therapy at Kariadi Hospital.
fingers were thinner and longer. Both hands The patient received stretching
had flexion contracture at the distal and exercises, ROM exercises, splints, modified
proximal interphalangeal joints. The fingers tools, and orthopedic surgery, which are
also had ulnar deviation. The patient had essential for arthrogryposis patients. The
contractures of the shoulders, elbows, physical medical rehabilitation programs
wrists, fingers, knees, and ankles. The hands were performed twice a week. The initial
were hook-shaped, with skewed fingers and programs were a range of motion and
ulna (Image. 2). No pathological findings stretching exercises. Those continued until
were found in the internal organs of the now. Since the age of five years, the patient
patient. had received ADL and fine motor skill
The contractures of the exercises. The ADL programs consist of
metacarpophalangeal and interphalangeal feeding, dressing, and grooming exercises.
joint cause a hook-like appearance of the Fine motor skill exercises were performed
hands. twice a week. These include writing,
drawing, and buttoning exercises.

Result
The admission to the hospital made her
meet the other patients with the same
diagnosis, which surprisingly increased her
self-confidence. She had regular
physiotherapy and occupational therapy
programs once a week. Hand wrist splint and
ankle-foot orthosis (AFO) were given to
prevent further deformity. The patient could
walk by holding onto a bench. She also
could eat alone with her arms supported by
her legs. The patient was given the exercise
activities of daily living using the correct
compensation technique. She obtained
walking exercises and a modified walker for
indoors and outdoors by wheelchair.
Furthermore, the patient attended Special
School C and had many good records such
Image 2. The fingers and the ulna were skewed, and as being the winner of various poetry
both hands were hook-shaped reading and storytelling competitions for
children with disabilities.
Intervention
The Physical Medical Rehabilitation Discussion
program was conducted in Kariadi hospital Children with AMC require
four years ago. Her past surgical histories interdisciplinary programs such as
were the soft-tissue release surgical of both pediatricians, rehabilitation professionals,
ankles. When she was three years old, the and orthopaedists.10 No major
surgery was extended to the wrist and finger malformations were found in the internal
flexors. The patient had 11 surgical organs of the AMC patient and there were no
interventions, and the orthopedist decided abnormalities in their intelligence or
that they would be continued until the
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 Surabaya Physical Medicine and Rehabilitation Journal, Vol. 5 No. 1, February 2023
pathological findings in the internal organs. improve scoliosis, walking ability, and
AMC is accompanied by several symptoms. balance. Thus, the patient’s performance and
Our patient had generalized muscle atrophy, ambulatory were getting better.9,12
weakness in the body, elbows and knee Most patients with AMC disease
semi-flexion, toes pterygium, clubfoot develop progressive scoliosis. Radiological
deformities of both feet, mild scoliosis, and follow-up of scoliosis should be carried out
lumbar hyperlordosis. In several studies, the regularly. If the curve size exceeds 40
AMC symptoms include thinning of the degrees, surgical intervention is currently
skin, muscle atrophy, and limb recommended.8,13 Some AMC patients need
abnormalities. Sometimes, they have also intensive rehabilitation and surgery for
abnormalities of the face and jaw, scoliosis, articular deformations. More than 70% of
and various abnormalities of the respiratory, patients with arthrogryposis foot joints need
urinary, and nervous systems.3,11 surgical correction. In addition, 39% of
In the case discussed here, we could patients with knee joints need
3,10
observe several joint deformities. The intervention. Before the children learn to
contractures made it hard to determine the walk, it is recommended to perform surgical
location of each anatomical site during release of the soft tissues with the total
clinical evaluation. Clinical examination release of the tendons. The use of plasters in
showed knee subluxations and hip joint arthrogryposis does not provide permanent
dislocations. There was a need for effective results.2
treatment without the risk of joint instability Comprehensive rehabilitation methods
and minor diagnostic errors. The orthopedic and orthopedic treatments showed
intervention of children with arthrogryposis significant improvements in range of motion
can give satisfactory results and decrease the and daily activities. Functional evaluation
limitations in daily activities. AMC patients and joint deformation evaluation were
should receive multidisciplinary integrated performed from the patient's birth.
examinations.8,10 Currently, she continues the rehabilitation
Various motion exercises, passive programs, close follow-up, and orthopedic
stretching, and serial casting are consultation. Several studies state that the
recommended for treating the contracture in best results will be obtained in the first
AMC patients. The therapy program may months of life if the corrective action starts
become a long-term rehabilitation program as early as possible. Developmental
due to the patient's condition. Using stimulation is also an essential program that
modified eating and drinking utensils is very should not be neglected. The articular
helpful for AMC patients.2,3,11 The patient limitation of the patient with arthrogryposis
was currently able to perform eating and can influence their cognitive development
drinking activities independently without and motor function.2,8,14
leg movements. The patient could also write
very well even though the movement of her Conclusion
fingers was very limited. Exercise like The physical medical rehabilitation
writing is also essential for them to gain a programs can improve the functional
better future. Several patients may need help condition of AMC patients. The goals of
from other people even if their independence AMC treatment are to gain the walking
returns. ability and improve the ability to
The prevention of deformity by early independently perform activities of daily
surgical release of contracted tissue should living. Stretching exercises, ROM exercises,
be considered. The patient had continued the splints, modified tools, and orthopedic
rehabilitation program at Kariadi hospital surgery are essential for arthrogryposis
since early childhood. She got her first patients.
surgery for the contractures when she was
three years old. The passive range of motion Acknowledgement
exercises and stretching were performed to The authors declare that they have no
treat her contractures and scoliosis. The goal conflict of interest with the publication of
of the walking exercise for the patient was to this study.
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 Surabaya Physical Medicine and Rehabilitation Journal, Vol. 5 No. 1, February 2023
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