Connective tissue disorders

Question 1

Primary characteristics fo hyper mobility spectrum disorder

Answer 1

Generalised joint hyper mobility/laxity

Chronic joint pain

Question 2

For diagnosis of HSD, what criteria must be satisfied form the Brighton criteria

Answer 2

Two major criteria (GJH and pain in multiple joints)
One major plus 2 minor
4 minor

Question 3

Beighton score

Answer 3

9 things

Question 4

HSD Physio treatment: Joint stability

Answer 4

Isometric exercises and muscle strengthening within normal range - avoid hyperextension
Postural correction to avoid secondary complications

Question 5

HSD Physio treatment: Low impact exercise

Answer 5

Les likely to cause injury than high impact/contact sports

Pilates, tai chi, swimming or walking

Question 6

HSD Physio treatment: Lifestyle modulation

Answer 6

Typing can reduce pain from writing

Avoid sustained postures with joints at EOR

Question 7

HSD Physio treatment: pain management

Answer 7

Heat packs, ice packs at alternating temps
To relieve pain of aching joints and muscles
Advice on appropriate dose of rest and exercise

Question 8

Hypermobile EDS

Answer 8

Generalised joint hyper mobility
Two or more of the features
- systemic manifestations of a more generalised CTD
- positive family history
- MSK complications
Absence of unusual ski fragility and exclusion of other heritable and acquired CTDs

Question 9

Classic EDS

Answer 9

Skin hyper extensibility and atrophic scaring

generalised joint hyper mobility

Question 10

EDS Physio

Answer 10

Essential component to pain relief: joint protection
- joint taping or bracing for stability
- strengthen muscles including core
- educate proper use and preservation of joints
Pain management
- acute (RICE); chronic (low impact strengthening)

Question 11

Marfan’s Syndrome - MSK signs

Answer 11

Generalised joint hypermobility
Tall, thin body, long thin limbs, elongated fingers
Scoliosis, pectus excurvatum or carinatum

Question 12

Marfan’s syndrome management

Answer 12

Pain management (RICE, low impact strengthening)
Improve posture, alignment and motor function
Pectus excurvatum surgery

Question 13

Types of osteochondrodysplasia

Answer 13

Achondroplasia (most common)

Osteogenesis Imperfecta

Question 14

Achondroplasia Diagnosis

Answer 14

Pre-natal US scans

Progressive discordance between femur length and bi=parietal diameter by age

Question 15

5 common signs of Achondroplasia in the UL (REACH)

Answer 15

Rhizomelia of the humerus (short humerus)
Elbow contractors +/- radial dislocation (limited extension)
Arm angle in cubits virus (limited supination)
Cannot oppose 3rd and 4th fingers (trident hand)
Hands and fingers are short and small

Question 16

7 common signs of Achondroplasia in the LL (TRAVELS)

Answer 16

Trident pelvis
Rhizomelic shortening of the femur
Acetabular angle reduced
Varus knee/genu varum/tibial bowing
Expanded metaphases at the knee
Long fibula
Short toes

Question 17

Achondroplasia - spinal problems

Answer 17

Gibbus deformity - short -segmental structural Tx:x kyphosis
Narrow sacra-sciatic notch
Progressive narrowing in interpedicular distances from Tx to Sx, creating lumbar spinal stenosis

Question 18

Achondroplasia Physio - ortho/spine

Answer 18

Prevent fixed TxLx typhus - delay sitting until independently strong enough to achieve this position, alternate positioning, bracing, surgery
Protect newborn Cx spine - positioning, handling
Limb lengthening

Question 19

Osteogenesis imperfecta - presentation

Answer 19

Diffuse osteoporosis/marked loss of bone - multiple and recurrent fractures, short stature, progressive deformity - scoliosis
Lax ligaments - hypermobile joints and increased dislocation
Weak muscles
Other abnormalities = skull shape, tooth formation, blue sclerae

Question 20

OI Type 1 classification

Answer 20

Most common
Milder form, fewer fractures and less bony deformities
Collagen normal quality but insufficient quantities
MSK features = short stature, bones fracture easily, slight spinal curvature, loose joints
Slight protrusion and blue sclera (eyes)
Early conductive hearing loss

Question 21

OI Type 2 classification

Answer 21

Most severe - most children die within first year of life
MSK features = collagen is not of a sufficient quality or quantity, extreme bone fragility, severe bone deformity, small stature
Severe respiratory problems - underdeveloped lungs

Question 22

OI: physio

Answer 22

Gentle to decrease risk of fracture, pain, fear of moving, pressure
Strengthen muscles and improve flexibility to reduce deformity
Improve endurance
Regular position changes to balance the muscles which are being used and bones under pressure
Developmental therapy - hydrotherapy
Physical aids - support cushions to improve posture; mobility aids; splints for function or pain relief

Question 23

Arthrogryposis Posture

Answer 23

Shoulder IR
Elbow extension and pronation
Wrist (volar and ulnar)
Fingers in fixed flexion
Thumb in palm
Hip flexed, abducted and in ER
Knee flexion
Clubfoot
Scoliosis

Question 24

Arthogryposis MSK treatment

Answer 24

Improve flexion to increase mobility

Active and gentle passive facilitation/mobilisation into limited ROM