A cross-sectional study to define disease course and study outcome measures in nemaline myopathy

Takeaway

  • 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.

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