Distal myopathies

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.