Muscular dystrophy and myopathy_Paediatric
Gene: LAMA2
Well established gene-disease association. Recent review of 86 individuals. Phenotype varies in severity, likely represents a single disorder rather than distinct entities. The majority of individuals have a congenital muscular dystrophy (CMD) phenotype classified as type 1A (MDC1A; MIM# 607855). The classical phenotype manifests as neonatal hypotonia or muscle weakness during the first months of life and reduced spontaneous movements. As muscle weakness persists during development, it compromises the achievement of normal motor milestones (no cephalic control or inability to sit unsupported) and frequently gives rise to failure to thrive. Other manifestations such as gastroesophageal reflux, aspiration, recurrent chest infections, and even respiratory failure are reported. Facial muscle weakness, ophthalmoparesis, and macroglossia are also features present in these patients but are often beyond early childhood. Other relevant clinical hallmarks of MDC1A include elevated creatine kinase (CK) levels and dystrophic changes (necrosis and regeneration of fibers, chronic inflammation, and fibrosis) recognizable in muscle biopsies of these patients. Structural brain abnormalities, seizures, and intellectual disability reported. Also note reports of late‐onset LAMA2‐MD patients, mainly characterised by proximal muscle weakness with onset during childhood, delayed motor milestones, achievement of independent ambulation, and persistently elevated CK levels.Created: 27 Aug 2020, 11:43 p.m. | Last Modified: 27 Aug 2020, 11:43 p.m.
Panel Version: 0.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Publications
Gene: lama2 has been classified as Green List (High Evidence).
Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Publications for gene: LAMA2 were set to
Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: LAMA2 was added gene: LAMA2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA2 was set to Unknown