Connective tissue disorders Flashcards
Primary characteristics fo hyper mobility spectrum disorder
Generalised joint hyper mobility/laxity
Chronic joint pain
For diagnosis of HSD, what criteria must be satisfied form the Brighton criteria
Two major criteria (GJH and pain in multiple joints)
One major plus 2 minor
4 minor
Beighton score
9 things
HSD Physio treatment: Joint stability
Isometric exercises and muscle strengthening within normal range - avoid hyperextension
Postural correction to avoid secondary complications
HSD Physio treatment: Low impact exercise
Les likely to cause injury than high impact/contact sports
Pilates, tai chi, swimming or walking
HSD Physio treatment: Lifestyle modulation
Typing can reduce pain from writing
Avoid sustained postures with joints at EOR
HSD Physio treatment: pain management
Heat packs, ice packs at alternating temps
To relieve pain of aching joints and muscles
Advice on appropriate dose of rest and exercise
Hypermobile EDS
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
Classic EDS
Skin hyper extensibility and atrophic scaring
generalised joint hyper mobility
EDS Physio
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)
Marfan’s Syndrome - MSK signs
Generalised joint hypermobility
Tall, thin body, long thin limbs, elongated fingers
Scoliosis, pectus excurvatum or carinatum
Marfan’s syndrome management
Pain management (RICE, low impact strengthening) Improve posture, alignment and motor function Pectus excurvatum surgery
Types of osteochondrodysplasia
Achondroplasia (most common)
Osteogenesis Imperfecta
Achondroplasia Diagnosis
Pre-natal US scans
Progressive discordance between femur length and bi=parietal diameter by age
5 common signs of Achondroplasia in the UL (REACH)
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
7 common signs of Achondroplasia in the LL (TRAVELS)
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
Achondroplasia - spinal problems
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
Achondroplasia Physio - ortho/spine
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
Osteogenesis imperfecta - presentation
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
OI Type 1 classification
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
OI Type 2 classification
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
OI: physio
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
Arthrogryposis Posture
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
Arthogryposis MSK treatment
Improve flexion to increase mobility
Active and gentle passive facilitation/mobilisation into limited ROM
