Other Myopathies

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

Abstract

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.

Keywords: Drug-induced myopathy; Metabolic myopathy; Myalgia; Necrotizing myopathy; Pompe disease; Progressive weakness; Statin myopathy; Toxic myopathy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / metabolism
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics
  • Muscle Weakness / metabolism
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism*
  • Mutation / genetics*
  • Myalgia / diagnosis
  • Myalgia / genetics
  • Myalgia / metabolism