this ppt includes few topic under pediatric disorders of bone & muscles. this helps the student s to learn, understand & identify each problem as early & could be able to provide adequate care.
3. MUSCULAR DYSTROPHIES
● They are group of hereditary disorders with gradual atrophy of
various skeletal muscles.
● Involves proximal muscles, loss of deep tendon reflexes &
pseudohypertrophy of muscle.
4. PATHOPHYSIOLOGY
● Swelling of muscle fibres
● Hyaline degeneration & increased connective tissue
formation
● Infiltration of fat between the fibres resembles
hypertrophy
● Central location of nucleus
5. CLINICAL TYPES
1. Pseudohypertrophic muscular dystrophy ( Duchenne & Becker
type)
● Commonest type in children age between 3 - 5 yrs
● X linked recessive inherited genetic disorder found in males
● Affecting pelvic girdle first followed by shoulder girdle
● Pseudohypertrophy of calf muscles
6. ● Symmetrical weakness of pelvic girdle, waddling gait,
lumbar lordosis, difficulty in climbing stairs & to get up
from supine position
● Mild mental retardation in some children
7.
8. ● Complications include cardiac involvement, respiratory
infections, heart failure
● Has poor prognosis
9. 2. Limb Girdle type ( Erb’s type )
● Involves shoulder & pelvic girdles without affecting the
face
● Both sexes are affected
● Prognosis is slightly better than Duchenne type
10. 3. Pelvifemoral type ( Leyden - Mobius type )
● Quadriceps & hamstring muscles show extreme weakness
● It is a slowly progressing dystrophy
4. Facioscapulohumeral type
● Face & shoulder girdle are affected first & the leads to pelvic
girdle
11. 5. Ocular myopathy
● Presented as ptosis
● Weakness of orbicularis oculi muscles, external
ophthalmoplegia & dysphagia.
12. 6. Distal Myopathy
● Includes two distinct type.
● Early onset with wasting of facial muscles
● Late onset in adolescence involving hand & feet
DIAGNOSIS
● History of illness, physical examination
● Lab investigations of serum enzymes.
● EMG
● Muscle biopsy
13. MANAGEMENT
● No effective Mx
● Avoid prolonged immobilization
● Exercise, cycling, physiotherapy, walking helps to maintain
muscular function & to prevent contractures
● Symptomatic Rx to prevent Cx
14. FLOPPY BABY SYNDROME
● Also called AMYOTONIA
CONGENITA
● Congenital disease marked by
generalized hypotonia of
muscles
16. CLINICAL MANIFESTATIONS
● Delay in walking, running & climbing stairs
● Infants manifest with frog legged position
● Diminished passive movements of extremities
● Head lag while pulling baby from supine
17. ● Diagnosis : history of illness, physical examination, EMG,
presence or absence of deep tendon reflex
● Mx : symptomatic & supportive Mx
19. ● It is a hereditary autosomal dominant osteoporotic syndrome,
characterized by multiple fractures due to osteoporosis &
excessive bone fragility
● Other features are skeletal deformities, blue sclera, congenital
deafness & lax ligaments
● Quality of bone matrix is low
20. TYPES
1. Osteogenesis imperfecta congenita
● It is a severe or fatal form
● 50% of this type are found as stillbirth
● Infants who were born die soon due to severe respiratory
infections as a result of multiple fracture & defective
thorax
21. 2. Osteogénesis imperfecta tarda
● Manifests symptoms in middle or late childhood or even in
puberty
ACCORDING TO THE SEVERITY OF OSTEOGENESIS
IMPERFECTA ,IT IS CLASSIFIED INTO
A. Type 1 osteogenesis imperfecta
● It is an autosomal dominant disorder
● Manifested with osteoporosis, excessive bone fragility with
fracture
● Blue sclera & conductive deafness
22. B. Type 2 Osteogenesis imperfecta
● It is a lethal disease with LBW & length deformity
● Hypotelorism, # of nasal bone
● Extremely short & deformed bend extremities
● Broad thighs fixed at right angles to the trunk
● Crumpled long bones
● Prenatal diagnosis is possible by USG, X-ray & biochemical
studies
● 50% of babies are born dead & 50% dies soon after death.
23. C. . Type 3 Osteogenesis imperfecta
● Autosomal recessive disorder
● Manifested with multiple #, blue sclera
D. Type 4 Osteogenesis imperfecta
● Autosomal dominant disorder
● Manifest any time from birth to adult life with # & deformities
● Sclera becomes less blue with age
24. Therapeutic Mx
● No specific Mx
● Adequate diet
● Vitamin D supplementation
● Administration of Calcitonin & Magnesium oxide
reduces risk of #
● Provide alpha or water mattress
25. ● Q2h positioning
● Assist with ADL
● Immobilization of #
● Correction of deformities
26.
27. DEVELOPMENTAL DYSPLASIA OF THE
HIP
● It describes condition involving the abnormal development of
the proximal femur/ acetabulum
● Left hip is commonly affected, but bilateral involvement in 50
% of cases
● Girls are affected 8 times more than males
29. PATHOPHYSIOLOGY
● Improper development of structures of hip joint ; femoral
head, acetabulum & capsule
● Leads to partial or incomplete dislocation of hip joint
● Ossification centres are delayed in appearance
30. ● The degrees of DDH, includes following ;
1. DYSPLASIA : found as shallow acetabulum with upward
slant of acetabular roof
2. Subluxation : acetabular surface is in contact with
shallow dysplastic acetabular surface but the head slides
laterally & superiorly
31. 3. Dislocation : articular cartilage of completely displaced femoral
head does not contact with articular cartilage
CLINICAL MANIFESTATIONS
● Physical findings can be identified through physical
examination of neonate
● Asymmetry of thighs
● Presence gluteal & knee folds
32. ● Diminished spontaneous movements
● Shortening of the affected limb
● Inability to abduct the hip
● Posterior bulging of femoral head
33. ● POSITIVE ORTOLANI SIGN : forced abduction of hip causes
clicking sound
● POSITIVE TRENDELENBURG'S SIGN : downward felt of pelvis
on affected side
● POSITIVE BARLOW’S TEST : hip instability
35. Therapeutic Mx
● Depends on the age of the child
● Subluxation of hip : managed by Pavlik harness or abduction
brace for maintenance of flexion, abduction position
● Dislocation of hip : requires traction & closed reduction
● Use of ambulatory devices
● analgesics
36. COMPLICATIONS
● Avascular necrosis , loss of ROM of hip, hip length
discrepancy
● Early osteoarthritis, femoral nerve palsy, recurrent
dislocation
39. CONGENITAL CLUB FOOT or TALIPES
● Congenital club foot or TALIPES is a nontraumatic deformity of
the foot.
● Foot is twisted out of shape or position. The deviations may
found in the direction of one or the other of the four lines of
movement or of two of these combinations
● Foot may deformed in plantar flexion ( talipes equinus) or
dorsiflexion ( (talipes calcaneus)
40. ● Foot may be abducted & inverted ( talipes varus) or
abducted & everted ( talipes valgus), or various
combinations of these,: talipes equinovarus, talipes
calcaneovarus, talipes equinovalgus & talipes
calcaneovalgus
● Most common type is talipes equinovarus, 95%, in which
foot is in plantar flexion & deviated medially. Heel is
elevated & foot is twisted inward.
41. ● Talipes calcaneovalgus : dorsiflexion & lateral deviation of foot
● Talipes equinus : toes are lower than heel, foot is extended &
the child walks on toes
● Talipes calcaneus : toes are higher than heels, foot is flexed,
heel alone touches the ground, causes child to walk with inner
side of heel, that causes infantile paralysis of muscles of
achilles tendon
44. INCIDENCE
● It is found in 1 - 3 /1000 live births
● Half of these are bilateral, boys are affected two times greater
than girls
ETIOLOGY
● Familial tendency
● Anomalous development of foot in fetal life
● Intrauterine malposition of fetal foot is due to oligohydramnios
& defective neuromuscular development of fetus
● Bony defects or contractures of achilles tendon
45. DIAGNOSIS
● Neonatal examination
● Family history
● X- ray
MANAGEMENT
● Standard foot wear in the first week of life
● Non operative serial manipulation followed by immobilization
in a plaster cast or splinting
● Correction of bony deformities
47. GENU VARUS ( BOWED LEGS)
● Knees are abnormally divergent & ankles are abnormally
convergent like bent bow
● Occurs due to lateral angulation of knee joints because of
inward deviation of longitudinal axis of tibia fibula
● Pathological causes are rickets, trauma, defective posture,
developmental problems & endocrinal disturbances
● Requires orthotic devices
48.
49. GENU VALGUM ( KNOCK KNEE)
● Abnormal convergent of knees with divergent ankles
● It is due to outward deviation of the longitudinal axis of both
tibia & femur resulting medial angulation of knees. The
intermalleolar distance becomes more than 8cm
● Pathological causes are rickets, juvenile rheumatic arthritis &
bony dysplasia
50. ● Other causes ; Post polio residual paralysis, cerebral
palsy, fractures, neoplastic diseases of bones & post
infective bony lesions
● Mx : stapling or osteotomy & orthotic devices for the
correction of deformity
