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Most common form of AMC; deficient formation of the muscle tissue
90% of surviving children; all four extremities involved; symmetrical distribution of multiple joints
Extremities - tubular appearance without normal skin folds over joints
Amyoplasia
Club foot deformity; hip subluxation; knee contractures; patellar realignment; shoulder reconstruction (rare)
Surgical management for AMC
Which type of OI have dentinogenesis imperfecta?
OI Type IB
T/F: Patient with OI have a normal healing time when they fracture a bone?
True, the bones heal on time, but don't heal well and will have a higher risk of fracturing again.
Which two types of strengthening exercises would be best for children with OI?
1. Functional activities
2. Isometrics
Maternal illness or exposures; fetal crowding; neurological deficits; vascular compromise; metabolic disturbances; neuromuscular end plate disturbances; connective tissue abnormalities/skeletal defects; muscle defects
Categories leading to decreased fetal movement
T/F: Arthrogryposis Multiplex Congenita does not progress, you get what you get at birth
True
Inherited disorder of connective tissue; "Brittle bone disease" or "Fragilitas Ossium"
Osteogenesis Imperfecta
This type of OI is not compatible with life; infants may be stillborn or may die within a few weeks; extreme bone fragility; marked delay of ossification of the skull and facial bones; long bones are crumbled; infants are small for their gestational age and have characteristic short, curved, and deformed limbs
OI Type II
What are the two main goals for patients with OI?
1. MAXIMIZE FUNCTION
2. DECREASE FRACTURE RISK
Non-progressive neuromuscular syndrome present at birth; characterized by severe joint contractures, muscle weakness, and fibrosis; defined by contractures at 2 or more areas at birth; fatal neonatal period 50% of the time
Arthrogryposis Multiplex Congenita
Which of these happens to the mom will place baby most at risk for arthrogryposis?
Maternal diabetes
Blue sclerae; dentinogenesis imperfecta (teeth); deafness; hernia; easy bruising; excessive sweating
Other possible symptoms of osteogenesis imperfecta
What is the life expectancy of a person with OI Type I?
60-70's
T/F: Fracture rate increases for children with OI when they are nearing or after puberty?
False, fracture rate diminishes near or after puberty
Common pattern: clubfoot, hip flexion, knee _______, shoulder tightness, elbow _______, wrist flexion
extension, flexion
Common pattern: hip abduction, flexion, and external rotation; knees _____, clubfoot, internal rotation of shoulders, _____ and ______ elbows, flexed wrists
Flexed; extended and pronated
Which type: 50% of the total OI population; markedly blue sclerae throughout life; generalized osteoporosis with bone fragility; joint hyperlaxity; early conductive hearing loss; generally short; at birth, weight and length are normal; 10% of fractures occur at birth
OI type I
Lax joints; weak muscles; diffuse OA; multiple recurrent fractures; deformity-ranges
Symptoms of osteogenesis imperfecta
For these types of patients, the PT should not do any resistive MMT or passive ROM/stretching
OI
ROM; MMT; pain scale; sensation; proprioception; gait analysis; developmental - PDMS2, BOT2; balance; functional assessment
Tests and measures
NICU, acute care, early intervention, outpatient, HHPT, school based
Rehabilitation settings
Which type of OI have normal teeth?
OI Type IA
No cure; vitamin D; whole body vibration; bone marrow transplant and stem cell therapy; bisphosphonates
Medical management of OI