Introduction-The phenotypic spectrum of LAMA2 muscular dystrophy varies from severe early onset congenital muscular dystrophy (MCD1) to mild variant of late onset muscular dystrophy (LAMA2-MD). The MCD1is characterised by hypotonia,frequent respiratory and feeding issues with less commonly with epilepsy. Cerebellar and corpus callosum is rarely involved. Here we report a series of five children with MCD1 with the expanding clinico-radiological spectrum ofLAMA2related.Methodology-Clinical presentation, serum creatinine phosphokinase,neuroimaging characteristics and genotype of five children with MCD1 were analysed. Results- The average age 4.3 years (1.5-7 years). All of them were symptomatic since infancy. Hypotonia and weakness (4/5) was common. Three younger children were non-ambulatory and older children (2/5)with epilepsy were ambulatory. Mild intellectual disability (2/5), peripheral neuropathy (1/5),contractures (1/5) were other features. Serum CPK level was in the range of 120 to 1900 units/L.All of them showed significant white matter signal changes on the MRI Brain except one. Corpus callosum (3/5), middle cerebellar peduncle (3/5) and brain stem (2/5) involvement were additional findings.Genetic testing revealed homozygous missense variants (3/5),compound heterozygous variant (1/5),homozygous nonsense variant (1/5) in LAMA2 gene. Conclusion- MCD1 typically lies at the severe end of spectrum of LAMA2 related muscular dystrophy with variable clinical and imaging data.

Sonali Singh
Institute of Neurosciences
India

Rahul Sinha
Command Hospital
India

Mona Tiwari
Institute of Neurosciences
India

Zulfikar Luhar
Apex Child Neurology and Epilepsy centre
India