Last modified: 2018-09-09
Abstract
LAMA-2 related muscular dystrophy can either present as a severe, early onset type or a milder, late onset form. The late onset LAMA-2 related muscular dystrophy occurs late in childhood or in adulthood, with milder presentation, similar to Limb Girdle Muscular Dystrophy. This type of muscular dystrophy is rare and prevalence is unknown.
We report an eight year old girl presenting with mildy delayed motor milestones with tendency to toe walking, proximal muscle weakness, mild pseudohypertrophy of calf muscles, difficulty in standing up from sitting position, elevated levels of Creatinine Kinase of more than 2000 int. units/lit on three occasions, EMG suggestive of primary muscular disease, normal Brain MRI, normal 2D Echo and ECG and a normal MLPA. With a high suspicion of Limb Girdle Muscular Dystrophy, a Congenital Muscular Dystrophy panel was studied for gene mutations which showed LAMA 2 positive ENST0000421865, homozygous on exon 17 c2363G>A (pCyS788Tyr) diagnostic of Merosin Deficient Congenital Muscular Dystrophy Type 1A of an Autosomal recessive inheritance, suggesting expanded spectrum of congenital muscular dystrophy.
Correct diagnosis of this condition is essential in order to counsel the parents and relatives as most individuals retain their ability to walk and climb stairs and life expectancy and intelligence are usually not affected. We recommend ruling out LAMA-2 related muscular dystrophy in any child who clinically resembles limb girdle muscular dystrophy.