G71.033

HCC Category Mapping

What This Code Means

A genetic muscle weakness disorder affecting the hip and shoulder muscles caused by dysferlin protein dysfunction, which helps stabilize muscle cell membranes.

Coding Tips

• •Verify dysferlin gene mutation or protein deficiency through genetic or muscle biopsy testing
• •Note that dysferlin-related disorders can present with variable severity and age of onset

Clinical Significance

Limb girdle muscular dystrophy due to dysferlin dysfunction (LGMD2B/LGMDR2, also known as dysferlinopathy or Miyoshi myopathy) affects muscle membrane repair, leading to progressive proximal and sometimes distal weakness. It is unique among muscular dystrophies in that it can present with distal weakness initially. Accurate coding supports genetic counseling, potential therapeutic trial eligibility, and appropriate risk adjustment.

Documentation Requirements

• ✓Genetic testing confirming DYSF gene mutation or muscle biopsy showing absent/reduced dysferlin
• ✓Clinical presentation: proximal weakness, possible distal involvement, elevated creatine kinase
• ✓Age of onset documentation (typically late teens to young adulthood)
• ✓Functional assessment: ambulatory status, specific muscle groups affected
• ✓Family history and inheritance pattern (autosomal recessive)
• ✓Provider's explicit diagnosis specifying dysferlin dysfunction

Commonly Confused Codes