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Related Experiment Video

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

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Distal myopathies.

I Pénisson-Besnier¹

¹Département de neurologie, centre de référence des maladies neuromusculaires, centre hospitalier et universitaire d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France.

Revue Neurologique

|September 7, 2013

Summary

Distal myopathies are genetic muscle disorders affecting muscles of the limbs. Recent advances identify fourteen distinct types, aiding clinicians in diagnosing these rare diseases.

Keywords:

Distal myopathy Dystrophie musculaire Génétique moléculaire Imagerie musculaire Molecular genetics Muscle imaging Muscular dystrophy Myopathie distale

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Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Distal myopathies are a diverse group of genetic neuromuscular disorders.
Characterized by weakness primarily in distal muscles.
Pathological findings confirm a myopathic process.

Purpose of the Study:

To review the clinical and genetic characteristics of identified distal myopathies.
To highlight recent findings in the field.
To provide clinicians with an overview for molecular diagnosis.

Main Methods:

Literature review of clinical and genetic data.
Analysis of identified genes and causative mutations.
Summary of diagnostic indicators.

Main Results:

Fourteen distinct distal myopathies are now defined by gene and mutation.
Previously, only five entities were recognized clinically.
Affected proteins include various types, notably sarcomeric proteins.

Conclusions:

The genetic landscape of distal myopathies has expanded significantly.
Clinical indicators like inheritance, onset, muscle pattern, CK levels, and pathology guide diagnosis.
This review synthesizes current knowledge for improved understanding and diagnosis.