[GNE myopathy].

Area of Science:

• Neuromuscular Disorders
• Genetic Diseases
• Metabolic Pathways

Background:

• GNE myopathy is a rare, inherited autosomal recessive neuromuscular disorder.
• It primarily affects adults, causing progressive muscle weakness in the extremities, initially impacting foot flexors.
• The condition is observed globally but shows higher prevalence in specific populations, including those of Persian Jewish origin and in East Asia.

Purpose of the Study:

• To provide a comprehensive overview of GNE myopathy, encompassing its genetic basis, clinical presentation, and diagnostic approaches.
• To clarify the accepted terminology, recognizing GNE myopathy as an umbrella term for previously distinct entities.
• To discuss the underlying metabolic defect and current therapeutic strategies.

Main Methods:

• Review of existing literature and clinical data on GNE myopathy.
• Analysis of the genetic mutations in the GNE gene and their functional consequences.
• Description of diagnostic criteria, including clinical examination, muscle imaging, and genetic confirmation.

Main Results:

• GNE myopathy results from mutations in the GNE gene, affecting sialic acid synthesis.
• Histological findings include rimmed vacuoles in muscle fibers, though these are not consistently present.
• Diagnosis is primarily clinical and genetic, supported by muscle imaging.

Conclusions:

• GNE myopathy is a distinct neuromuscular disease with a specific genetic and metabolic basis.
• While diagnostic methods are established, effective treatments are still under development, with current management focused on supportive care.
• Ongoing research into therapeutic trials offers hope for future interventions.