Changes in thigh muscle volume over 6 months were assessed using magnetic resonance imaging in 11 subjects aged 6 to 47 years with spinal muscular atrophy (4 type 2 and 7 type 3; 4 ambulatory and 3 nonambulatory). Muscle volume with normal and abnormal signal was measured using blinded, semiautomated analysis of reconstructed data. Volumes at baseline and 6 months were correlated with clinical function at each epoch. There was minimal increase in normal (0.3 ± 1.4 mL/cm) and total (0.1 ± 1.3 mL/cm) muscle. Muscle volume correlated closely with clinical function. Minimal interval change in muscle volume is consistent with the established clinical history of minimal disease progression over intervals shorter than 1 year. Relative constancy of muscle volume estimation and correlation with established functional measures suggest a role for segmental magnetic resonance imaging as a biomarker of treatment effect in future therapeutic trials.
EmeryAE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1:19–29.
2.
PearnJ. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978;15:409–413.
3.
WangCHFinkelRSBertiniES. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22:1027–1049.
4.
HildrethHGJohnsonRKGoranMIContompasisSH. Body composition in adults with cerebral palsy by dual energy X-ray absorptiometry, bioelectrical impedance analysis, and skinfold anthropometry compared with the 18O isotope-dilution technique. Am J Clin Nutr. 1997;66:1436–1442.
5.
McDonaldCAbresch-MeyerANelsonMWidmanL. Body mass index and body composition measures by dual x-ray absorptiometry in patients aged 10 to 21 years with spinal cord injury. J Spinal Cord Med. 2007;30:S97–S104.
6.
AbreschRMcDonaldDWidmanL. Impact of spinal cord dysfunction and obesity on the health-related quality of life of children and adolescents. J Spinal Cord Med. 2007;30:S112–S118.
7.
McDonaldCMCarterGTAbreschRT. Body composition and water compartment measurements in boys with Duchenne muscular dystrophy. Am J Phys Med Rehabil. 2005;84:483–491.
8.
SprouleDMMontesJMontgomeryM. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord. 2009;19:391–396.
9.
LiusuwanAAbreschRMcDonaldC. Altered body composition affects resting energy expenditure and interpretation of body mass index in children with spinal cord injury. J Spinal Cord Med. 2004;27:S24–S28.
10.
Dopler-NelsonMWidmanLAbreschR. Metabolic syndrome in adolescents with spinal cord dysfunction. J Spinal Cord Med. 2007;30:S130–S142.
11.
PichiecchioAUggettiCEgittoM. Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy. Eur Radiol. 2002;12:2704–2709.
12.
ZanardiMTagliabueAOrcesiS. Body composition and energy expenditure in Duchenne muscular dystrophy. Eur J Clin Nutr. 2003;57:273–278.
13.
Leroy-WilligAWilligTHenry-FeugeasM. Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects. Magn Reson Imaging. 1997;15:737–744.
UenoTYoshiokaHIwasakiN. MR findings of spinal muscular atrophy type II: siblings cases. Magn Reson Med Sci. 2003;2:195–198.
16.
MercuriEPichiecchioAAllsopJ. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging. 2007;25:433–440.
17.
SprouleDMPunyanityaMShenW. Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol. 2010;26:309–317.
18.
KostovaFWilliamsVHeemskerkJ. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. J Child Neurol. 2007;22:926–945.
19.
ShenWWangZMPunyanitaM. Adipose tissue quantification by imaging methods: a proposed classification. Obes Res. 2003;11:5–16.
20.
ShenWWangZTangH. Volume estimates derived in vivo by imaging methods: model comparisons with visible woman as the reference. Obes Res. 2003;11:217–225.
21.
O’HagenJMGlanzmanAMMcDermottMP. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007;17:693–697.
22.
MercuriEMessinaSBattiniR. Reliability of the Hammersmith functional Motor Scale for Spinal Muscular Atrophy in a multicentric study. Neuromuscul Disord. 2006;16:93–98.
23.
MainMKaironHMercuriEMuntoniF. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003;7:155–159.
NelsonLOwensHHynanLSIannacconeST. The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord. 2006;16:374–380.
26.
WagnerKRFleckensteinJLAmatoAA. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008;63:561–571.
27.
KisselJTMcDermottMPMendellJR. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001;57:1434–1440.
28.
van der KooiELLindemanERiphagenI. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2005; CD003907.
29.
BorgsteinNGYangYHCondonCH. ACE-031 significantly increases lean body mass and muscle volume in healthy postmenopausal volunteers following a single subcutaneous dose. Neurology. 2010;74:A283–A284.
