Lecture 12

Question 1

Make sure to watch the videos

Answer 1

Embedded in the PowerPoints from the Campbell text

Question 2

What is Arthogryposis Multiplex Congenita (AMC)?

Answer 2

The presence of contractures of TWO OR MORE body areas at birth

Question 3

What is the incidence of Arthogryposis Multiplex Congenita (AMC)?

Answer 3

1 in 3000 live births in the US

Question 4

What is the Etiology of Arthogryposis Multiplex Congenita (AMC)?

Answer 4

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 development

See Campbell pg 382

Question 5

What joints are affected by Arthogryposis Multiplex Congenita (AMC)? What are the prevalance rates? Which is the most common?

Answer 5

i. Foot 78-95%
ii. Hip 60-82%
iii. Wrist 43-81%
iv. Knee 41-79%
v. Elbow 35-92%
vi. Shoulder 20-92%

Question 6

What are the two patterns commonly seen in Arthogryposis Multiplex Congenita (AMC)?

Answer 6

1. Flexed and dislocated hips, extended knees, clubfeet (equinovarus), internally rotated shoulders, flexed elbows, flexed and ulnarly deviated wrists

AND

2. Abducted and externally rotated hips, flexed knees, club feet (equinovarus), internally rotated shoulders, extended elbows, flexed and ulnarly deviated wrists

Question 7

What are common characteristics to both patterns of Arthogryposis Multiplex Congenita (AMC)?

Answer 7

Club feet, flexed and ulnarly deviated wrist, and internally rotated shoulders

Question 8

What are other abnormalities seen in AMC? WHAT IS USUALLY NORMAL?

Answer 8

Also may have: scoliosis, hemangiomas, congenital heart disease, facial abnormalities, respiratory problems, but SPEECH and COGNITION are usually NORMAL.

Question 9

What are the stipulations for surgery for clubfoot correction?

Answer 9

posteromediolateral release before 2 years old

Question 10

What other surgeries are available for AMC (besides clubfoot correction)?

Answer 10

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

Question 11

Interventions for AMC?

Answer 11

-Walk by 2.5 years.

Maximize strength, enhance development (Standing by 6 months), stretching, serial splinting (change every 4-6 weeks initially), orthotics, gait training, family education. (view campbell DVD for more details)

Question 12

What is Osteogenesis Imperfecta (OI)?

Answer 12

An inherited disorder of a defect in collagen synthesis resulting in lax joints, weak muscles, and diffuse osteoporosis (with multiple recurrent fractures, often resulting in deformity).

Question 13

What else does Dr. Ricci have to say about OI?

Answer 13

Early PT to prevent deformity and disability Normal intelligence, parents need support to not over-protect

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

Question 14

Scoliosis and Kyphosis present in how many precent children with OI?

Answer 14

Scoliosis and kyphosis in 50% of children with OI, mostly in Type III and IV, rather than Type I (less involved), due to compression fx of vertebra

PT: 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

Question 15

What are extensible Intermedullary Fixation Rods common in?

Answer 15

Long bones, like the tibia

Question 16

What is involved in the PT Management of OI?

Answer 16

JUDICIOUSLY APPLIED WEIGHT BEARING is still needed for 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 ambulation

Weekly 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

Question 17

What is Muscular Dystrophy (MD)?

Answer 17

Progressive loss of muscle contractility. Genetic inheritance plays a factor.

Question 18

What is seen in Duchenne’s MD?

Answer 18

Gower’s sign and calf 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

Question 19

What is Becker’s Muscular Dystrophy?

Answer 19

Onset 5-10 years old

X-Linked Inheritanced

Slowly progressive. Maintain walking past early teens. Life span into 3rd decade.

Question 20

What are the 9 primary classifications of MD?

Answer 20

DMD(onset between 1-4 yrs),

BMD (5-10 yrs),

congenital (recessive) and congenital myotonic (dominant) (both diagnosed at birth),

childhood onset facioscapulohumeral (childhood) and Emery Dreyfuss (childhood to early teens- only one with possibly normal life span)

See PPT for chart

Question 21

PT Intervention of DMD?

Answer 21

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

Question 22

What is spinal muscular atrophy? (SMA)

Answer 22

Muscle weakness due to progressive loss of anterior horn cells.

Heterogeneous disorder with several different clinical presentations and rates of progression.

Typically inherited as autosomal recessive, genetic defect on chromosome.

There are 4 types. Type IV is adult-onset.

Question 23

What is Type I SMA?

Answer 23

Type I - Werdnig-Hoffman-acute.

Onset 0-3 months.

Rapidly progressive, severe hypotonia, Death within first year. (1 in 1000)

Question 24

What is Type II SMA?

Answer 24

Type II- Werdnig-Hoffman-chronic. (3 months to 4 years).

Rapid progression that stabilizes, moderate to severe hypotonia, shortened life span. (1 in 1000)

Question 25

What is Type III SMA?

Answer 25

Type III- Kugelberg-Welander.

5-10 years.

Slowly progressive, mild impairment. (6 per 100000)

Question 26

PT Intervention for SMA?

Answer 26

Support for family is extremely important.

Muscle weakness due to progressive loss of anterior horn cells- muscle biopsy differentiates SMA from DMD

Head control in acute SMA- more recent evidence show children living longer

Unclear 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.

Question 27

What is the Brooks Scale and Vignos Scale?

Answer 27

(see attached image)