Altered muscle strength and architecture influences motor performance in boys with

severe haemophilia and ankle joint haemarthrosis

David Stephensen1,2, Wendy Drechsler1, Oona Scott1

1Human Motor Performance Laboratory, School of Health, Sport & BioscienceUniversity of East London

2Kent Haemophilia Centre, Kent & Canterbury Hospital

Haemophilia Deficiency of factor 8 (haemophilia A) or factor 9 (Haemophilia B /

Christmas disease)

X linked recessive

Presents before 1 year of age

Haemophilia Deficiency of factor 8 (haemophilia A) or factor 9 (Haemophilia B / Christmas disease)

X linked recessive

Presents before 1 year of age

Recurrent frequent spontaneous bleeding intomuscles and joints

Results in chronic disabling arthropathy

Background

Annual bleed frequency of 1-2 bleeds / yr (Feldmen et al. 2006; Manco-Johnson et al. 2007; Gringeri et al. 2011)

Ankle joint is the most common site of bleeding(Stephensen et al. 2009)

Muscles are smaller and weaker than their unaffected peers

(Stephensen et al., 2012)

Alterations in balance and gait when compared to unaffected peers

(Bladen et al. 2007; Stephensen et al. 2009; De Souza et al., 2012)

Aim of the study

Relationship of lateral gastrocnemius muscle architecture to:

Ankle plantar flexor muscle strength

Knee and ankle function

Participants

Typically developing boys

(TD; n = 19)

Haemophilic boys

(H; n = 19)

Age (yrs) 9.86 1.30 10.37 2.11

Body mass (kg) 34.00 7.08 40.47 12.05

BMI (kg/m²) 18.12 3.75 18.18 2.99

Body stature (m) 1.36 0.07 1.47 0.15

Haemophilic boys were receiving prophylactic treatment and had a history of only ankle joint bleeding

Methodology

Muscle architecture Anatomical cross sectional area (ACSA) Thickness (MT) and width (MW) Muscle fascicle length (FL) and pennation angle

(PA)

Isokinetic muscle strength

Three-dimensional joint angles and moments

Three-dimensional joint angles and moments

Three-dimensional joint angles and moments

Initial DoubleSupport

SingleSupport

TerminalDoubleSupport

Swing

Group TD (n=19)

Group H (n=19)

ACSA (mm2) 690.00 ± 126.00 579.00 ± 86.00*** Muscle architecture MT (mm) 17.00 ± 1.50 15.10 ± 2.10**

Maximum (Nm) 41.04 ± 15.41 26.64 ± 13.89** Muscle strength Normalised to body mass (Nm/kg) 1.05 ± 0.30 0.66 ± 0.31***

Gait Initial double support Knee FLEX moment (Nm/kg) 0.52 ± 0.26 0.71 ± 0.30*

Single support Ankle DF angle (º) 14.03 ± 4.18 16.18 ± 3.66* Knee FLEX moment (Nm/kg) 0.56 ± 0.27 0.76 ± 0.31* Knee EXT moment (Nm/kg) -0.17 ± 0.49 0.03 ± 0.17* Maximum GRF (N/kg) 11.63 ± 0.87 12.41 ± 0.42* Minimum GRF (N/kg) 7.24 ± 0.75 6.79 ± 0.85*

Terminal double support Knee EXT moment (Nm/kg) 0.02 ± 0.06 0.05 ± 0.04*

*p<0.05; **p<0.01; ***p<0.005

Results

Group TD (n=19)

Group H (n=19)

ACSA (mm2) 690.00 ± 126.00 579.00 ± 86.00*** Muscle architecture MT (mm) 17.00 ± 1.50 15.10 ± 2.10**

Maximum (Nm) 41.04 ± 15.41 26.64 ± 13.89** Muscle strength Normalised to body mass (Nm/kg) 1.05 ± 0.30 0.66 ± 0.31***

Gait Initial double support Knee FLEX moment (Nm/kg) 0.52 ± 0.26 0.71 ± 0.30*

Single support Ankle DF angle (º) 14.03 ± 4.18 16.18 ± 3.66* Knee FLEX moment (Nm/kg) 0.56 ± 0.27 0.76 ± 0.31* Knee EXT moment (Nm/kg) -0.17 ± 0.49 0.03 ± 0.17* Maximum GRF (N/kg) 11.63 ± 0.87 12.41 ± 0.42* Minimum GRF (N/kg) 7.24 ± 0.75 6.79 ± 0.85*

Terminal double support Knee EXT moment (Nm/kg) 0.02 ± 0.06 0.05 ± 0.04*

*p<0.05; **p<0.01; ***p<0.005

Results

Group TD (n=19)

Group H (n=19)

ACSA (mm2) 690.00 ± 126.00 579.00 ± 86.00*** Muscle architecture MT (mm) 17.00 ± 1.50 15.10 ± 2.10**

Maximum (Nm) 41.04 ± 15.41 26.64 ± 13.89** Muscle strength Normalised to body mass (Nm/kg) 1.05 ± 0.30 0.66 ± 0.31***

Gait Initial double support Knee FLEX moment (Nm/kg) 0.52 ± 0.26 0.71 ± 0.30*

Single support Ankle DF angle (º) 14.03 ± 4.18 16.18 ± 3.66* Knee FLEX moment (Nm/kg) 0.56 ± 0.27 0.76 ± 0.31* Knee EXT moment (Nm/kg) -0.17 ± 0.49 0.03 ± 0.17* Maximum GRF (N/kg) 11.63 ± 0.87 12.41 ± 0.42* Minimum GRF (N/kg) 7.24 ± 0.75 6.79 ± 0.85*

Terminal double support Knee EXT moment (Nm/kg) 0.02 ± 0.06 0.05 ± 0.04*

*p<0.05; **p<0.01; ***p<0.005

Results

5

10

15

20

25

0 20 40 60

Muscle strength (Nm)M

us

cle

th

ick

ne

ss

(m

m)

300

400

500

600

700

800

0 20 40 60

Muscle strength (Nm)

AC

SA

(m

m2)

TD: r = 0.43

H: r = 0.06 TD: r = 0.35

H: r = 0.53

Muscle strength is related to muscle size

0.0

0.5

1.0

1.5

0.00 0.05 0.10Specific muscle torque (Nm/mm

2)

Kn

ee

fle

xio

n m

om

en

t (N

m/k

g)

H: r = -0.61 (p < 0.05)

TD: r = -0.32

0.0

0.5

1.0

1.5

30 40 50 60 70 80

Fascicle length (mm)

Kn

ee

fle

xio

n m

om

en

t (N

m/k

g)

TD: r = 0.24

H: r = -0.58 (p < 0.05)

10

11

12

13

14

15

0 20 40 60

Muscle strength (Nm)

Ma

xim

um

GR

F (

N/k

g)

H: r = -0.59 (p < 0.05)

TD: r = -0.45

-0.1

0.0

0.1

0.2

0.3

0.00 0.05 0.10

Specific muscle torque (Nm/mm2)

An

kle

do

rsif

lex

ion

mo

me

nt

(Nm

/kg

)

0

10

20

30

5 10 15 20 25

Muscle thickness (mm)

An

kle

pla

nta

rfle

xio

n (

0)

TD: r = -0.13

H: r = 0.52(p < 0.05)

TD: r = 0.13

H: r = -0.46(p < 0.05)

Clinical significance

Importance of evaluating muscle function and strength

Ankle plantar flexors are weaker and smaller

Muscle strength and architecture strongly influence gait adaptations

Impacts ankle and knee joint function during weight-bearing phases of walking

Acknowledgements

(NIHR)National Institute for Health Research

NHS

d.stephensen@uel.ac.uk