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Myofibrillar myopathies

Duygu Selcen1, Andrew G Engel

  • 1Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA. Selcen.duygu@mayo.edu

Handbook of Clinical Neurology
|April 19, 2011
PubMed

Insights

Myofibrillar myopathies (MFMs) are a group of muscle disorders diagnosed via muscle biopsy. While genetic causes are increasingly identified in Z-disk proteins, many MFM disease genes remain undiscovered.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Myofibrillar myopathies (MFMs) are a heterogeneous group of inherited muscle disorders.
  • They share a common pathological hallmark: myofibrillar dissolution and Z-disk disintegration.
  • Associated features include progressive muscle weakness, cardiomyopathy, and peripheral neuropathy.

Purpose of the Study:

  • To review the current understanding of myofibrillar myopathies.
  • To highlight the diagnostic features and genetic underpinnings of MFMs.
  • To emphasize the ongoing search for novel MFM-associated genes.

Main Methods:

  • Diagnosis relies on characteristic muscle biopsy findings.
  • Clinical presentation and associated symptoms are documented.
  • Genetic analysis focuses on Z-disk-associated proteins.

Main Results:

  • MFMs exhibit Z-disk abnormalities and ectopic protein expression (e.g., desmin, αB-crystallin).
  • Clinical phenotypes vary, with distal weakness, limb-girdle, or scapuloperoneal patterns.
  • Mutations in known Z-disk proteins (desmin, αB-crystallin, myotilin, ZASP, filamin C, Bag3) are identified, but the genetic cause remains unknown in many cases.

Conclusions:

  • Myofibrillar myopathies present a spectrum of clinical and pathological features.
  • While several causative genes have been identified, a significant portion of MFMs remain genetically unresolved.
  • Further research is crucial to discover novel genes underlying MFMs and improve diagnosis and treatment.

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