We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21, c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family. MDC1A

There had been increased and strong public interests in rare diseases and orphan drugs as well as the issue of compulsory licencing for expensive medications in Malaysia in the mass-media and social media. We reviewed the issues of orphan drugs and the challenges faced in many countries in developing appropriate health financial modelling as well as getting accurate data on rare diseases. We also reviewed the old off-patent medications and the developments on how policy-makers can intervene to make expensive treatment affordable and sustainable for patients and the country