Other Myopathies

Link to article at PubMed

Neurol Clin. 2020 Aug;38(3):619-635. doi: 10.1016/j.ncl.2020.04.002.


Healthy muscle relies on a complex and interdependent network that includes, but is not limited to, proteins, ion channels, and the production and utilization of ATP. Disruptions to the system can occur for a number of reasons (genetic mutations, toxins, systemic disease, inflammation), yet they clinically present with symptoms that are nonspecific and common to myopathies: weakness, muscle pain, cramping, hypotonia. This article uses a case-based format to review the clinical reasoning and diagnostic tools that guide the accurate diagnosis of myopathies. We specifically focus on toxic, metabolic, mitochondrial, and late-onset congenital myopathies.

PMID:32703473 | DOI:10.1016/j.ncl.2020.04.002

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