ankle instability. This study indicates ankle instability is common in pae-

diatric CMT and suggests interventions, which aim to normalise foot pos-

ture, may help to improve ankle stability in this population.

http://dx.doi:10.1016/j.nmd.2012.06.295

S.P.21

Clinical outcome measures in Collagen 6 (COL6) and Laminin a2(LAMA2)

related congenital muscular dystrophy

K.G. Meilleur 1, M. Jain 2, E. Kim 3, L. Hynan 4, C.Y. Shieh 2, M. Waite 2,

T. Duong 5, A. Glanzman 6, M. Main 7, K. Rose 8, M. McGuire 9,

R. Bendixen 10, R. Foley 7, S. Donkervoort 1, A. Schindler 1, A.

Kokkinis 1, E.J. Hartnett 1, M. Leach 5, J. Dastgir 1, K. North 8, F.

Muntoni 7, A. Rutkowski 11, C.G. Bonnemann 1

1 National Institutes of Health, National Institute of Neurological Disorders

and Stroke, Bethesda, United States; 2 National Institutes of Health,

Rehabilitation, Bethesda, United States; 3 CureCMD, San Franscico,

United States; 4 Dallas Children’s Medical Center, Dallas, United

States; 5 Children’s National Medicial Center, Washington, DC, United

States; 6 Children’s Hospital of Philadelphia, Physicial Therapy, Philadel-

phia, United States; 7 University College London, London, United King-

dom; 8 Insitute for Neuroscience and Muscle Research, Westmead,

Australia; 9 Cincinatti Children’s Hospital, Cincinatti, United

States; 10 University of Florida, Gainesville, United States; 11 Kaiser Per-

manente, Los Angeles, United States

Potential therapies targeting primary deficiencies and downstream tar-

gets are under development for two extracellular matrix related congenital

muscular dystrophy (CMD) subtypes, COL6 and LAMA2. However, out-

come measures for clinical trials have not been validated in CMD. We per-

formed a pilot study of various outcomes measures to test the feasibility of

obtaining measurements in CMD and to validate their use for future clinical

trials. Twenty-nine patients participated in the study (16 COL6 and 13

LAMA2). Measures tested included: myometry (knee flexion, elbow flexion

and extension, cervical flexion in sitting) forced vital capacity sitting in liters

(FVC), Motor Function Measure 32 (MFM32), North Star Ambulatory

Assessment (NSAA), and Hammersmith Functional Motor Scales. We per-

formed Spearman Rank analysis to assess their correlations. Our study

revealed the following: myometry measures reflect feasibility of obtaining

reproducible measurements, including knee flexion, elbow flexion and

elbow extension, which correlated with MFM32 total score (r = 0.59–

0.69, p < 0.003). FVC correlated significantly with all three domains of

the MFM32 (range r = 0.48–0.70, p < 0.009) and MFM32 total score

(r = 0.664, p < .001) and myometry measures (range r = 0.73–0.84,

p < .001). The NSAA correlated with the MFM32 total score (r = 0.86,

p < 0.001) and FVC (r = 0.63, p = 0.001), as did the Hammersmith

(MFM32 r = 0.93, p < 0.001; FVC r = 0.57, p < 0.001). Preliminary results

from this study of outcome measures in patients with COL6 and LAMA2

related CMDs indicate the above measures correlate highly and signifi-

cantly with each other, demonstrating the feasibility of measurements and

initial validation in CMD patients. Studies are underway to validate the

MFM32 further in this patient group. In the next phase of the study, we will

compare outcomes over 3 years and assess their sensitivity to change and

ability to characterize disease progression in COL6 versus LAMA2 patients

and in ambulatory versus non-ambulatory patients.

http://dx.doi:10.1016/j.nmd.2012.06.296

S.P.22

Coloring muscle weakness “CMW” a new tool in neuromuscular diseases

J.R. Corderi 1, A. Dubrovsky 1, P.S. Kishnani 2, L. Case 3, R. Javan 4, J.

Horvath 4

1 Fundacion Favaloro – Instituto de Neurociencias, Neurology, Buenos

Aires, Argentina; 2 Division of Medical Genetics, Duke University, Depart-

ment of Pediatrics, Durham, NC, United States; 3 Duke University,

Community & Family Medicine, Durham, NC, United States; 4 Duke

University, Radiology, Durham, NC, United States

In the evaluation of neuromuscular diseases (NMDs), assessment of

muscle strength is among the most important tools for diagnosis. Manual

muscle testing (MMT) is the test most frequently used in the clinical setting.

Instrumental measurements are also used but special equipment is needed.

For MMT, several scales can be used but the normal MRC (0–5) and its

expanded version (0–10) are the most widely utilized. Results are expressed

in numbers. One of the first clues for diagnosing a specific NMD is the rec-

ognition of the pattern and distribution of muscle weakness. The use of

visual aids such as shape and color can greatly assist in the interpretation

of the findings and enhance the clinical understanding of each case. Color

provides an important dimension in visual communication and can greatly

enhance the effectiveness in the perception of muscle weakness. We have

developed a color scale to illustrate muscle weakness that matches the

expanded MRC scale, going from blue (10) to black (0). The colors are

transferred automatically to a human silhouette by means of a software

application so that the individual muscles or muscle groups are individual-

ized. The system allows recognition of different patterns of muscle weakness

and of individually affected muscles at a glance, providing a new tool for

communication, reporting and teaching. It is also very useful in the follow

up of individual cases. Examples of this new tool and its applications are

presented, and potential uses in the study of NMDs are analyzed.

http://dx.doi:10.1016/j.nmd.2012.06.297

S.P.23

Percent predicted forced vital capacity is a viable outcome measure in

Laminin alpha 2 – Deficient congenital muscular dystrophy

J. Collins 1, R. Vandyke 2, M. Fenchel 2, M. McCallum 3, S. Volker 3,

A.R. Foley 4, F. Muntoni 4, F. Stehling 5, U. Schara 6, A. Rutkowski 7,

N. Deconinck 8, H. Sawnani 2, C.G. Bonnemann 9, R. Amin 2

1 Cincinnati Children’s Hospital Medical Center, Child Neurology, Cincin-

nati, United States; 2 Cincinnati Children’s Hospital Medical Center,

Cincinnati, United States; 3 Institute of Genetic Medicine, Newcastle Upon

Tyne, United Kingdom; 4 Dubowitz Neuromuscular Centre, Institute of

Child Health, London, United Kingdom; 5 University Hospital Essen, Essen,

Germany; 6 University of Essen, Essen, Germany; 7 Cure CMD and Kaiser

SCPMG, Los Angeles, United States; 8 University Hospital Ghent and

Hopital Universitaire des Enfants Reine Fabiola, Universite Libre de

Bruxelles, Ghent and Brussels, Belgium; 9 National Institutes of Health,

Bethesda, United States

Laminin alpha 2 – deficient congenital muscular dystrophy (MDC1A)

patients present with significant skeletal muscle weakness and develop pro-

gressive respiratory insufficiency due to scoliosis, intercostal skeletal mus-

cle weakness and multi-joint contractures with decreased compliance of

their thoracic cavity. The longitudinal progression of pulmonary function

in patients with MDC1A has not been previously characterized. Force

vital capacity (FVC) is a standard quantitative measurement of respiratory

function with FVC percent predicted (FVCpp) measurements being sensi-

tive to both positive and negative change in serial respiratory function

assessments. The aim of this study was (1) to determine the longitudinal

progression of FVCpp in patients with MDC1A, analyzing both ambula-

tory and non-ambulatory cohorts as well as those on or not on ventilation

support (VS) and (2) to determine if FCVpp is a viable outcome marker

for progression of disease. Retrospective chart reviews of patients with

confirmed MDC1A were performed at 6 international neuromuscular cen-

ters: Belgium (1), Germany (1), United Kingdom (2), and United States (2)

with additional data points provided by the CMD International Registry.

Abstracts / Neuromuscular Disorders 22 (2012) 804–908 893