Presentations

Question 1

What is Osteogenesis Imperfecta?

Answer 1

Congenital disorder that affects collagen-producing genes and affects the musculoskeletal system

Question 2

Main sign of OI?

Answer 2

Decreased bone density, bone fragility, frequent fractures.

Question 3

Is there a cure for OI?

Answer 3

no

Question 4

What is the medical management?

Answer 4

Bone rodding - realign long bones to begin weight bearing.

Bone marrow transplantation Whole body vibration

Question 5

Pharmacological interventions for OI…

Answer 5

Biphosphonates work through inhibition of osteoclasts

Steroids should not be used

Immobilization if absolutely necessary but try not to.

Question 6

PT interventions and goals…

Answer 6

Goal of PT is to promote mobility and try to increase bone density.

Aquatic therapy can be used to decrease loading.

Be aware of possible metabolism increase…

Question 7

What is spinal muscular atrophy? (SMA)

Answer 7

Genetic motor neuron disease affecting voluntary movement.

Leads to progressive loss of anterior horn cells.

Question 8

What is Werdnig-Hoffman disease?

Answer 8

Otherwise known as Infantile Onset SMA (Type 1). Symptoms present from birth to 6 months.

Question 9

Symptoms of Type 1 SMA…

Answer 9

Includes:

• Generalized muscle weakness
• Weak cry
• Breathing distress
• Difficulty swallowing & sucking
• Doesn’t reach milestone of being able to sit up unassisted.

Question 10

What is the leading cause of mortality for those with SMA?

Answer 10

Pulmonary issues Leading cause of genetic death among youth or something.

Question 11

What are the implications for PT regarding SMA?

Answer 11

Evidence-Based Interventions:

Body Structure & Function stretching

posture/contractures night splinting at end-range

ROM posture/contractures concentric endurance & strength training exercises

muscle weakness inspiratory muscle training

respiratory insufficiency cough assist/BiPAP

respiratory insufficiency percussion & postural drainage

Upper respiratory infection

Evidence-Based Interventions: Activity

standing program ischial WB KAFOs if non-ambulatory mobile arm support ↓ feeding difficulty improve function/play

Evidence-Based Interventions: Participation

Power mobility environmental modification ramps bathroom adaptation & equipment van with lift/tie downs assistive technology & switch toys adapted gym/sport activity

Question 12

What are the Primary impairments of SMA?

Answer 12

see photo

Question 13

What is an obstetrical brachial plexus injury?

Answer 13

Injury to the plexus sustained during birth.

Common injury in newborn.

Question 14

Type 1 OBI….

Answer 14

Also known as Erb’s palsmy. Most common type. Involves C5, C6, and sometimes C7. Patient will be in the waiters tip position.

Question 15

Type 2 OBI….

Answer 15

MORE SERIOUS Affects C5-T1 roots. Presentation will be flaccidity. Assess the patient’s issues causing it.

Question 16

What is horner’s syndrome?

Answer 16

Disruption of the sympathetic ganglion in C8-T1 leading to eyelid ptosis, pupilary miosis, and unilateral facial sweating.

Question 17

Medical Management of OBI includes?…

Answer 17

Non surgical: Monitor shoulder function Botox to manage muscle imbalances Surgical: indicated if there is an abscence of elbow flexion by 3-4 months. Score on the toronto scale of <3.5 at 3 months is the big one.

Question 18

OBI therapy interventions…

Answer 18

Maintain ROM Strengthen in sidelying Infant massage for sensation Need to weight bear with what they can.

Question 19

Arthrygriptosis

Answer 19

AMC is a nonprogressive neuromuscular
syndrome presented at birth.

AMC = Contractures in ≥2 body areas

Question 20

Most affected body parts.

Answer 20

Affected body parts
◆ Foot: 78% - 95%
◆ Hip: 55% - 90%
◆ Wrist: 43% - 81%
◆ Knee: 38% - 90%
◆ Elbow: 35% - 92%
◆ Shoulder : 20% - 92%

Question 21

What is the Jacknife in Arthrogripos?

Answer 21

• Flexed & dislocated hips
• Extended knees
• Clubfeet
• Internally rotated shoulders
• Flexed elbows
• Flexed and ulnarly deviated
• wrists

Question 22

What is the biggest sign of Arthrogripsonosis?

Answer 22

Joint Contractures!

Associated characteristics:
◆ Scoliosis
◆ Dimpling of skin over joints
◆ Absent or decreased finger creases
◆ Congenital heart disease
◆ Facial abnormalities
◆ Respiratory problems
◆ Abdominal hernias

Question 23

What are the ICF model considerations for Arthropopegenova?

Answer 23

Changes in Body Structure

• Prenatal damage to the anterior horn cells → neurogenic and myopathic disorders
• Decreased number of motor units within a muscle
• Scar tissue and fibrotic tissue do not grow and stretch to the same extent as healthy muscles

Changes in Body Function:

• Multiple joint contractures
• Can be progressive with growth
• Fibrotic joint capsules
• Strength limitations
• Frequent imbalance of oppositional muscles with stronger muscles
• often shortened

Activity:

• Limited functional mobility skills (rolling, creeping, and feeding),
• high-level mobility skills, and transitional movements
• Limited ability to transfer
• Increased dependence in transfers for ADL (toileting)
• Limited independence in self-care skills (dressing)
• Limited ambulation
• Inability to manage uneven terrain
• Immobilization during periods of orthopedic management
• Limited wheelchair mobility without costly adaptations
• Decreased endurance

Participation:

• Limited opportunity for play with young peers
• Inability to live independently
• Limited access to educational and work opportunities
• Limited access to a wide range of environments
• Limited participation in physical activities (endurance and safety issues)
• Health insurance may not pay for necessary adaptive equipment
• Need to learn how to adapt for new alignment once allowed to mobilize
• Social isolation