A stable disease course can be established in nemaline myopathy (NM), a clinically and genetically heterogeneous neuromuscular condition; motor function, pulmonary function and slurp tests are reliable outcome measures for clinical trials.
Why this matters
NM, historically defined by the observation of nemaline rods in muscle biopsy, is characterized by congenital onset bulbar and extreme weakness and hypotonia.
NM has been associated with mutations in 12 genes, and several genotype-phenotype correlations have been identified in previous studies.
However, disease-modifying therapies are still lacking for NM.