congenitale spierdystrofie type 1A (aandoening)
congenitale spierdystrofie type 1A
Congenital muscular dystrophy type 1A
MCD1A - muscular congenital dystrophy type 1A
Merosin-negative congenital muscular dystrophy
Congenital muscular dystrophy due to laminin alpha2 deficiency
CMD1A - congenital muscular dystrophy type 1A
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy with characteristics of hypotonia, muscle weakness and muscle wasting. The disease presents at birth or in the first few months of life with hypotonia and muscle weakness in the limbs and trunk. Respiratory and feeding disorders can also occur. Motor development is delayed and limited. Infants present with early rigidity of the vertebral column, scoliosis, and respiratory insufficiency. There is facial involvement with a typical elongated myopathic face and ocular ophthalmoplegia disorders can appear later. Caused by mutations in the LAMA2 gene coding for the alpha-2 laminin chain. Transmission is autosomal recessive.
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified