LAMA2-MD are classically divided into two main phenotypic categories: a more common, severe, early-onset form, presenting with features of CMD, also known as Merosin Deficient Congenital Muscular Dystrophy type 1A (MDC1A), and a much less common, milder, later-onset form often presenting with a phenotype suggestive of LGMD with prominent joint contractures. The gene discussed is LAMA2; the disease is Menkes disease.