Musculoskeletal Pathologies

Ehlers-Danlos Syndrome (EDS)

abnormal collagen synthesis can lead to skin hyper-extensibility, ligamentous laxity, tissue fragility, delayed wound healing, and easy bruising/bleeding - other S/S include chronic pain, fatigue, dysautonomia, and proprioceptive and coordination deficits. Potential for developmental delay, possible co-occurrence with postural orthostatic tachycardia syndrome

beighton

utilize ___ scale and 5PQ to assess for EDS

6 5 4

beighton scale for generalized hypermobility ; >/= ____/9 for prebuescent children, >/= ____/9 for adolescents to 50 years, >/= ___/9 for 50 years+

Juvenile Idiopathic Arthritis (JIA)

Autoimmune inflammatory disorder; umbrella term for all forms of arthritis that begin BEFORE 16 years, persist longer than 6 weeks, and are of unknown cause; S/S include chronic joint swelling, pain, and limited motion, muscle atrophy and weakness, poor aerobic function, and impaired exercise tolerance

16 6 unknown

Requires for JIA include forms of arthritis that begin before ____ years of age, persist longer than ____ weeks, and are of _____ cause

Hemophilia

Chronic bleeding disorder; X-linked, males more likely than females, joint involvement (knee, elbow, ankle, hip, shoulder)

Leg Length Discrepancy

Caused by contractures, hip subluxation, spinal alignment, etc.

0 2 2 6 6 20 20

___-___cm LLD = no treatment, ___-___cm LLD = shoe lift, orthotics, epiphysiodesis, skeletal shortening, ___-___cm LLD = limb lengthening procedure, >_____cm = prosthetic fitting

Limb Deficiencies

Deletions occurring between 3 and 8 weeks gestation, causes may include genetics, vascular issues, teratogenic, and amniotic bands

Transverse Deficiency

Limb deficiency named at the level where the limb terminates

Longitudinal Deficiency

Limb deficiency named proximal to distal, partial or total

Osteogenesis Imperfecta (OI)

Fragile bone-genetic collagen mutation. RISK OF FRACTURES. Often parents are looked into for child abuse due to multiple fractures at a young age

Arthrogryposis Multiplex Congenita (AMC)

Multiple contractures and joint deformities at birth as well as lack of muscle development; usually symmetrical, often affects feet, hips, wrists, knees, elbows, and shoulders, can be mild to severe

cobb

Amount of curve for scoliosis is measured by the ____ method

45

scoliosis surgery is required for curves over ____ degrees

20 45

Orthotics/bracing are often prescribed for curves between ____ and ____ degrees

10

Children should be referred if > ___degree curve

Developmental Dysplasia of the Hip (DDH)

Pathological hip instability; RF include genetic predisposition, first born, female, breech positioning, high birth weight, certain congenital conditions; diagnosed with ultrasound, hip abduction limitations or asymmetry, LLD

Pavlik Harness

Harness that maintains hip in flexion and abduction to promote acetabular development; medical management of DDH

Surgery and Spica casting

Other management options for DDH

Legg-Clave-perthes (LCP)

Bone abnormality (avascular necrosis of the femoral head), more common in boys, 4-8 years/old, RF = maternal smoking, Cause = interruption of blood from medial femoral circumflex artery, Sx = limp, pain aggravated by activity that improves with rest, pain often reported in anteromedial thigh or knee pain

abduction ER

Hip ____ and ____ is best position for hip development

Slipped Capital Femoral Epiphysis

Femoral neck and shaft displace anteriorly and superiorly to the femoral head, more common in adolescent males, Sx = pain in anterior thigh, limp, ROM, limited in flexion, abduction and IR, Treatment = surgery with screw fixation

Congenital Talipes Equinovarus (Club foot)

Bone anomaly results in high arch, metatarsus adductus, varus, inversion, and equines (plantarflexed) deformities

Medical management = surgery, serial casting, ponseti method

Brachial Plexus: Nerve roots C5-T1

Injury occurs when nerve roots are stretched, typically during delivery; RF = >8 lbs weight, breech, use of forceps or suction to deliver, in older children usually caused by sports injury or trauma

Erb's Palsy

Brachial plexus injury (C5 and C6); "waiter's tip" - UE is IR, adducted, wrist flexed and fingers extended

Klumpke's Palsy

Brachial plexus injury (C8 and T1); Hand clawed, thumb in abduction, medial arm sensation affected

neurosurgery

Full BPI = ______ for reconstruction

good

For Erb's Palsy, prognosis is ____ if therapy is initiated at birth

6

If significant improvement with BPI is not noted by ___ months, long term disability is likely

Idiopathic Toe Walking

Child walks on toes with no neurological or sensory explantation; can be intermittent or constant, child needs to be OVER 3 years old, toe touch at initial contact, short step length

Spinal Muscular Atrophy

Autosomal recessive disorder, degeneration of anterior horn cells of the spinal cord, muscle atrophy, wide spread weakness, absent deeo tendon reflexes; sensation and cognition NOT usually affected, Sx = limb and trunk weakness, muscle atrophy, hypotonia, soft tissue contractures, hip subluxations, and scoliosis

gene

___ therapy can significantly improve outcomes for spinal muscular atrophy, especially if started early

Duchenne Muscular Dystrophy (DMD)

Progressive weakness and degeneration of skeletal and respiratory muscles; Lacking dystrophin-protein that maintains muscle integrity, fatal, X-linked recessive gene, males will have the disease and females carry it

S/S: WBOS, knee hyperextension, increased lordosis, tow walking, difficulty walking getting up from the floor, clumsiness, gross motor regression, pseudo hypertrophy of calf muscles

proximal distal

Weakness in DMD is ____ to ____

eccentric

For DMD, avoid ____ exercise