Lecture 12 Flashcards
Make sure to watch the videos
Embedded in the PowerPoints from the Campbell text
What is Arthogryposis Multiplex Congenita (AMC)?
The presence of contractures of TWO OR MORE body areas at birth
What is the incidence of Arthogryposis Multiplex Congenita (AMC)?
1 in 3000 live births in the US
What is the Etiology of Arthogryposis Multiplex Congenita (AMC)?
Unknown, but insult in the first trimester limits fetal movement.
Associated with neurogenic and myopathic disorders, , motor weakness, and subsequent contractures.Neurogenic – post-mortem findings of generation of the anterior horn cells.Myopathic disorders: Embryologically, the muscles are formed normally but are replaced by fibrous and fatty tissue during fetal developmentSee Campbell pg 382
What joints are affected by Arthogryposis Multiplex Congenita (AMC)? What are the prevalance rates? Which is the most common?
Foot 78-95% Hip 60-82% Wrist 43-81% Knee 41-79% Elbow 35-92% Shoulder 20-92%
What are the two patterns commonly seen in Arthogryposis Multiplex Congenita (AMC)?
1. Flexed and dislocated hips extended knees clubfeet (equinovarus) internally rotated shoulders flexed elbows flexed and ulnarly deviated wrists
Abducted and externally rotated hips flexed knees club feet (equinovarus) internally rotated shoulders extended elbows flexed and ulnarly deviated wrists
What are common characteristics to both patterns of Arthogryposis Multiplex Congenita (AMC)?
Club feet
flexed and ulnarly deviated wrist
IR shoulders
What are other abnormalities seen in AMC? WHAT IS USUALLY NORMAL?
Scoliosis Hemangiomas Congenital heart disease Facial abnormalities Respiratory problems
SPEECH and COGNITION = NORMAL.
What are the stipulations for surgery for clubfoot correction?
Posteromediolateral release before 2 years old
What other surgeries are available for AMC (besides clubfoot correction)?
Reduction of dislocated hips - bracing first with hip spica, then surgery if needed.
Knee flexion contracture release or osteotomy
Knee extension contracture release
Wrist fusion for function if splinting and stretching are unsuccessful
Scoliosis (about 20%) - posterior spinal fusion
Interventions for AMC?
-Walk by 2.5 years. Strengthen Enhance development (Standing by 6 months) Stretching Serial splinting (change every 4-6 weeks initially) Orthotics Gait training Family education
What is Osteogenesis Imperfecta (OI)?
Inherited disorder Defect in collagen synthesis Lax joints Weak muscles Diffuse osteoporosis (with multiple recurrent fractures, often resulting in deformity).
What else does Dr. Ricci have to say about OI?
Early PT to prevent deformity and disability
Instruct parents to not overprotect
Medical management: pamidronate IV therapy (biphosphonate to treat osteoporosis)OI Types- II and VIII supposedly life threatening Silence classification system (4 grades), grade I = 50% of children with OI, moderate osteroporosis, joint hyperlaxity, also possible hearing loss, dentinogeneis imperfecta
What percentage of children with OI have both Scoliosis and Kyphosis?
50% .
Mostly in Type III and IV, rather than Type I (less involved), due to compression fx of vertebraPT: know fx history, mobilization types, handling used by parents; Above and below previous fx can be more susceptible to fx- newly healed fractures contain a callus formation that actually makes that part of the bone less likely to fracture than above and below- this is particularly important if the fracture resulted in bowing of a long bone, affecting the normal alignment for weight bearing
What are extensible Intermedullary Fixation Rods common in?
Long bones, like the tibia
What is involved in the PT Management of OI?
JUDICIOUSLY APPLIED WEIGHT BEARING (maximum bone health and proper growth) (Fracture rate declines as adulthood approaches, most eventually walk)Other interventions
Proper positioning and handling- no forces across long bones, on pillow,distribute pressure,change position to strengthen sitting by 10 months indicative of future ambulation- protected ambulationWeekly PT in infant period to support family, fx healing in 2 wks in newborn, 6 wks in infancy, Intelligent and cheerful Do chores, reduce sibling rivalry
Promote participation- sports, vocation, college, half choose to marry
What is Muscular Dystrophy (MD)?
Progressive loss of muscle contractility
Genetic inheritance plays a factor.
What is seen in Duchenne’s MD? What intervention should be used with caution? How does one get DMD?
Gower’s sign
Calf and Deltoid psuedohyprtrophy.
Role of exercise controversial: widely accepted that overexertion and immobilization are detrimental
X-Linked Inheritance RAPIDLY Progressing.
Loss of walking by 9-10 years.
Death in early teens.
DMD: most common x-linked disorder known Missing protein dystrophin
Onset= 1-4 years old Incurable, but not untreatable live until third or fourth decade – (1:20,000 live births) , 2-3 cases per 100,000 population dx confirmed by emg, muscle biopsy, DNA analysis, assay of blood enzymes
What is Becker’s Muscular Dystrophy?
Onset 5-10 years old
X-Linked InheritancedSlowly progressive
Maintain walking PAST early teens.
Life span into THIRD decade.
What are the 9 primary classifications of MD?
DMD (onset between 1-4 yrs)
BMD (5-10 yrs)
Congenital (recessive) and congenital myotonic (dominant) (both diagnosed at birth)
childhood onset Facioscapulohumeral (childhood)
Emery Dreyfuss (childhood to early teens- only one with possibly normal life span)
See PPT for chart
PT Intervention of DMD?
Prevention of deformities
Maintaining strength and functional skills (Vignos scale)Abdominals, hip extensor and abductors, knee extensors
Overall conditioning Standing/walking 2-3hrs daily minimum
Breathing exercises
Contracture prevention/management: night splinting
Mobility
Participation
What is spinal muscular atrophy? (SMA)
Muscle weakness due to progressive loss of anterior horn cells.
Heterogeneous disorder with several different clinical presentations and rates of progression
Inherited as autosomal recessive, genetic defect on chromosome.
4 types. Type IV is adult-onset.
What is Type I SMA?
Type I - Werdnig-Hoffman-acute.
Onset 0-3 months
Rapidly progressive, severe hypotonia, Death within first year. (1 in 1000)
What is Type II SMA?
Type II- Werdnig-Hoffman-chronic.
3 months to 4 years.
Rapid progression that stabilizes, moderate to severe hypotonia, shortened life span. (1 in 1000)
What is Type III SMA?
Type III- Kugelberg-Welander
5-10 years
Slowly progressive
Mild impairment. (6 per 100000)
PT Intervention for SMA?
Support for family is extremely important
Muscle weakness due to progressive loss of anterior horn cells- muscle biopsy differentiates SMA from DMDHead control in acute SMA- more recent evidence show children living longerUnclear classification in early months- need to keep working carefully on attainment of milestones since children with Type I are often mis-classified and live longer than initially thought (both I and II demonstrate very low muscle tone)
AVOID FATIGUE, find the “just-right” balance between fatigue and premature wasting due to immobility ROM and positioning to prevent contractures, esp in Type I (contractures less prevalent in Type II)The later the onset, the longer the lifespan.
What is the Brooks Scale and Vignos Scale?
(see attached image)
