Autosom recess limb girdle musc dyst d/t calpain-3 dysfnct

This code identifies a specific genetic disorder characterized by progressive weakness and wasting of muscles, primarily affecting the shoulders, upper arms, hips, and thighs. It is an inherited condition resulting from a mutation in the CAPN3 gene, leading to a deficiency in the calpain-3 protein. The disease typically manifests in childhood or adolescence and progresses at varying rates.

Use this code for patients diagnosed with limb-girdle muscular dystrophy (LGMD) confirmed to be of the autosomal recessive type and specifically linked to calpain-3 dysfunction (LGMD2A or LGMDR1). This diagnosis often requires genetic testing to identify the specific CAPN3 gene mutation. Documentation should clearly state the diagnosis of LGMD due to calpain-3 deficiency.

• Ensure genetic testing results or a definitive clinical diagnosis from a neurologist confirm calpain-3 dysfunction.
• Do not confuse with other forms of limb-girdle muscular dystrophy that have different genetic etiologies.
• Consider sequencing with codes for associated symptoms or complications, such as muscle weakness (M62.81) or gait abnormalities (R26.2).