ARTHROGRYPOSIS MULTIPLEX

CONGENITA
[Syn: Multiple Congenital
Contractures (MCC)] &
Myopathy
 In the year 1841, Otto first described AMC. Swinyard and Beck
gave the name MCC. AMC is a nonprogressive syndrome
characterized by:
Rigid and deformed joints.
Muscle absence or atrophy.
Cylindrical or ellipsoid joints with skin crease loss and
subcutaneous atrophy.
Contractures of capsules and periarticular structures.
Dislocation of joints like hip and knee.
Normal mentality and intact sensation.
 Causes
Intrauterine immobilization of joints at various stages of
development is due to:
Myopathic cause seen in 10 percent of cases. Autosomal
recessive.
Neurogenic cause is due to reduced number or improper
organization of anterior horn cells, peripheral nerves and motor
end plates, weakness of muscles, etc.
Mechanical causes like breech, twins, oligohydramnios amniotic
bands, etc. which reduce the intrauterine space.
 Classification (Sharrard, Brown and
Robson)
Eight types: Two upper limb and six lower limb deformities are
encountered.
Common variety is quadriplegic type (Fig. 42.9A).
Scoliosis is associated in 20 percent of the cases of AMC; webbing of
the knees is seen in some.
Clinical Features
In AMC unlike other congenital anamolies, deformities are the main
complaints (Fig. 42.9B). The following are the common orthopedic
deformities in AMC:
Foot: Planovalgus and equinovarus.
Knee: Flexion contracture and fixed in extension.
Hip: Extension, abduction, external rotation.
Shoulder: Medial rotation of shoulder.
Elbow and wrist Flexed.
 Investigations
Muscle biopsy.
Electromyography.
Nerve conduction studies.
Radiograph for scoliosis, dislocation, etc.
Chromosomal studies.
Treatment
The treatment consists of passive stretching exercises, serial splinting
of the limbs and surgical correction.
Principles of Orthopedic Treatment
Muscle balance is to be restored if tendons are available for transfers.
Recurrence is the rule due to tough inelastic capsule and soft tissues.
Tenotomies should be accompanied by capsulotomy and
capsulectomy.
Osteotomies are to be carried out once skeletal growth is over,
otherwise recurrence occurs.
Maximum correction is to be obtained during the initial surgery. There
is no role of wedging, etc.
MUSCULAR DYSTROPHIES
 Classification
Three types namely sex linked recessive, autosomal dominant
and autosomal recessive.
 DUCHENNE MUSCULAR DYSTROPHY
Clinical Features
This consists of delayed walking, abnormal gait and multiple falls (in
less than 3 years child does).
Gowers sign is positive (Fig. 42.14), hypertrophy of calf muscles,
waddling gait, increased lumbar lordosis, weakness of shoulder
muscles around 5-6 years, serrati, pectorals, deltoid, latissimus dorsi,
biceps, triceps and brachialis muscles are weak.
In lower limbs weakness of hip flexors, evertors of feet, tibialis
anterior are seen, ocular; pharyngeal and masticator muscles are
never involved.
Knee jerk is absent earlier than ankle jerk. Tendo-Achilles
contractures appear first, later hamstrings, hip flexors and elbow
follow.
Intellectual impairment is present.
Death below 16 years is due to respiratory infection or cardiac
failure.
 DMD is an X-linked disorder with the chromosomal abnormality at the
Xp21 gene locus . As noted above, the gene codes for the protein
dystrophin, an important cytoskeletal component of the muscle cell
membrane.
It appears that absence of dystrophin makes the muscle cell highly
susceptible to mechanical stress, with eventual muscle fiber loss and
replacement with fibrotic tissue.
DMD is the most common form of childhood muscular dystrophy, with
an incidence of approximately 1:3,500 male births.
Typical male inheritance pattern.
The abnormal gait is often noted by toe walking, which is a
compensatory adaptation to knee extensor weakness, or increased
lumbar lordosis as a compensation for hip extensor weakness. Another
indication of pelvic girdle weakness is Gowers sign.
 The patient generally begins by assuming a four-point stance,
then brings the knees into extension while leaning the upper
limbs forward, and sequentially moves the hands up the thighs
until upright stance is achieved.
 Probably the most reasonable method to test strength in the
clinic is to observe repetitive maneuvers, such as rising from a
squat, repeatedly standing on the toes, or raising the arms
overhead with resistance.
The clinician should observe for Gowers sign: The patient rises
from a low surface by pushing against the knees and moving the
hands up the thighs to substitute for knee and hip extensor
weakness.
 One of the earliest features in patients with myopathy is
hyperlordosis of the lower back, a compensation for hip
extensor weakness by maintaining the weight line behind the hip
joints. Waddling is typical during gait because of weakness of the
hip abductor musculature, resulting in the necessity to bring the
trunk over the weight-bearing limb during stance phase, the so-
called gluteus medius lurch.
When knee extensor weakness becomes significant enough to
cause knee buckling, the ankle is postured into progressive
plantar flexion, producing a knee extension moment at heel
strike and positioning the weight line anterior to the knee during
later stance, which stabilizes the knee. This pattern
predominates in DMD and BMD.
 Key Physical Examination Points
for Suspected Myopathy
Proximal > distal weakness, including neck and facial
muscles
Observation of facial features
Sensationshould be normal
Muscle tendon reflexes preserved or mildly decreased
Presence of clinical myotonia
Waddling gait with Gowers sign on standing
Positioning of the shoulder girdle
 In myopathies, muscle atrophy may not be obvious until late in the
disease because of a wid normal range of variation in the population
and the typical symmetry
of muscular involvement.
Calf enlargement may be noted in dystrophic myopathies, particularly
in DMD and Becker muscular dystrophy (BMD).
This pseudohypertrophy is caused by increased fat and connective
tissue volume, rather than muscle fiber hypertrophy (1) (Fig. 30-1).
Unlike many myopathic disorders, joint contractures are a major
concern in DMD. Nearly all affected boys older than 13 years have
contractures and these contractures most commonly occur first in
the ankle plantar flexors, iliotibial bands, and hip flexors, with
subsequent involvement of the knee flexors and elbow and wrist
flexors.
There does not appear to be a strong correlation between less than
antigravity strength for a muscle group and the severity of joint
contracture, nor for strength imbalance between antagonists across a
joint.
 Investigations
Serum glutamic oxaloacetic transminase (SGOT), serum
glutamate pyruvate transaminase (SGPT), lactate
dehydrogenase5 (LDH5) aldolase and creatinine phosphokinate
(CPK) levels are raised.
Muscle biopsy and electromyography (EMG) helps.
Electrocardiogram (ECG) shows biventricular hypertrophy.
 Symptomatic respiratory failure in DMD typically manifests in
later adolescence.
Management of this complication is covered more in detail at
a later section.
It is not surprising that cardiac function is affected in DMD,
because the dystrophin protein has been shown to be present
in both the myocardium and Purkinje fibers.
 Rehabilitation Concerns in DMD
Maintaining mobility, range of motion, and strengt
during childhood
Progressive scoliosis
Progressive restrictive lung disease
Cardiac dysrhythmias and cardiomyopathy
Obesity (early adolescence) and cachexia (late
adolescence)
Psychosocial adjustment and social interaction
 Becker Muscular Dystrophy
BMD is similar to DMD as an X-linked recessive disorder. It has a
similar pattern of muscle weakness, but generally presents with
a later onset and a slower rate of progression .
Like DMD, the disorder has an abnormality in the gene location
(Xp21) coding for the protein dystrophin. However, in this case,
dystrophin levels are usually 20% to 80% of normal, or have the
presence of the protein with an abnormal molecular weight.
Without dystrophin analysis, it may be difficult to clinically
discriminate between DMD and BMD. Although age of onset
typically occurs later in BMD, there is significant overlap with
DMD.
 It is unusual for a patient with BMD to be wheelchair
dependent before late adolescence, whereas even DMD
outliers are dependent on the wheelchair for mobility by age
16.
Contractures are not a significant early functional problem in
BMD , becoming problematic only after wheelchair
dependence.
 FACIOSCAPULOHUMERAL
MUSCULAR DYSTROPHY
This is seen in second decade of life and the fascial
musculature is involved early.
The patient complains of inability to close the eyes, slurred
speech, etc.
Elevation of the scapula on abduction is characteristic. In the
upper limbs, deltoid and wrist flexors are spared.
In the lower limbs, anterior tibial muscle is involved earlier.
Majority of the patient suffering from this dystrophy have a
normal life span.
 LIMB GIRDLE MUSCULAR
DYSTROPHY
It is seen in the second or third decade.
Lower limb girdle weakness appears first followed by
upper limb.
Muscular hypertrophy is rare.
Winging of the scapula is seen.
There is no involvement of cardia.
Treatment for Muscular Dystrophies
This consists of physiotherapy, mental and physical
support, speech therapy, and mechanical aids like
splints, walking aids, etc.
 Clinical Features Suggesting the
Need for Ventilatory Support in
Myopathy

Symptoms/signs
Nightmares
Morning headache
Daytime drowsiness
Generalized fatigue
Dyspnea at rest
Orthopnea
Paradoxical breathing pattern
Pulmonary function testing
Vital capacity <4555% predicted
MIP <30% predicted
Hypercapnia