[Motor function evaluation in merosin-deficient congenital muscular dystrophy children].
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype with a severe motor and respiratory involvement. Eleven children with clinical and histological diagnosis of CMD-MD, aged of 3 to 15 years, were studied using the manual muscle testing (Medical Research Council), goniometric analysis, motor ability and day life activities (Barthel index) scales, with the objective to characterize the main motor function limitations. The muscular groups most affected were cervical flexors, paravertebral and proximal portions of limbs. The muscular groups of upper limbs were as affected as the lower limbs, and the extensors were more affected than the flexors groups. All children had severe muscular retractions on the hip, knee and elbow. Other frequent deformities were scoliosis and equinus-varum feet. No children presented the motor ability to walk, stand up and crawl; and all of them were classified as dependents or semi-dependents in the day life activities scale. Our findings confirm the severe and diffuse involvement of skeletal muscle in CMD-MD patients, producing serious motor limitations and deformities.
Rocco
Fernanda M
FM
Clínica de Doenças Neuromusculares da Associação de Assistência a Criança Deficiente (AACD), São Paulo SP, Brasil. roccofilho@sti.com.br
Luz
Fernanda H Gianini
FH
Rossato
Alexsander Junquera
AJ
Fernandes
Antônio Carlos
AC
Oliveira
Acary S B
AS
Betetas
Javier Toledano
JT
Zanoteli
Edmar
E
D000203:Activities of Daily Living; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007797:Laminin / Q000172:deficiency*; D008297:Male; D009043:Motor Activity; D009136:Muscular Dystrophies / Q000151:congenital* / Q000503:physiopathology; D012720:Severity of Illness Index
D007797:Laminin