Abstract
Inherited and acquired muscular weakness is caused by multiple conditions. While the
inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic
diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies.
Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary
approach. What is the current place for a diagnostic biopsy of skeletal muscle? Diagnostic
muscle biopsy lost in this context its first-tier place in the primary diagnostic
workup for some diseases, but it is still mandatory for others. We here summarize
conditions in which we believe a diagnostic sample is most relevant and mention those
in which a biopsy may be secondary or can even be left out. We would like to stress
that muscle biopsy nowadays has a new important place in description and definition
of new diseases, for example, discovered by modern genetic approaches.
Keywords
congenital weakness - congenital myopathy - congenital dystrophy - infantile inflammatory
myopathy - next-generation sequencing - muscle pathology
