Inherited neuromuscular diseases: an explosion in diagnostic modalities

Congenital muscular dystrophies and myopathies, limb girdle muscular dystrophies, congenital myasthenic syndromes, hereditary neuropathies, and mitochondrial myopathies can often have similar phenotypes. Historically, certainly when the Archivist was training, histology and neurophysiology were the first line investigations. Why do my neurology colleagues delay in organising the muscle biopsy to make the diagnosis? In 2020, next generation sequencing (NGS) is commonly used as one of the first diagnostic modalities available for the neuromuscular disease. Thompson R et al [The Lancet Neurology 2020;19(6): 522–532. https://ift.tt/2ASnYtp] has published a fantastic review on the current advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. This has answered my question and is a great summary of the science and the art of making a diagnosis in the ‘floppy hypotonic baby.’ In the last 10 years, the advances in DNA sequencing technologies have resulted in a near doubling of...

from Archives of Disease in Childhood current issue https://ift.tt/2Yey68H