Autosomal recessive limb girdle muscular dystrophy due to calpain-3 dysfunction
ICD-10 G71.032 is a billable code used to indicate a diagnosis of autosomal recessive limb girdle muscular dystrophy due to calpain-3 dysfunction.
Autosomal recessive limb girdle muscular dystrophy (LGMD) due to calpain-3 dysfunction is a genetic disorder characterized by progressive weakness and wasting of the proximal muscles, particularly those around the hips and shoulders. This condition is caused by mutations in the CAPN3 gene, which encodes the calpain-3 protein, essential for muscle function and repair. Patients typically present in childhood or early adulthood with symptoms such as difficulty climbing stairs, lifting objects, and performing overhead activities. Muscle biopsy may reveal dystrophic changes, and genetic testing can confirm the diagnosis. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Management focuses on physical therapy, supportive care, and monitoring for complications, as there is currently no cure for the condition. Early diagnosis and intervention can help improve quality of life and maintain mobility for as long as possible.
Detailed neurological examination findings, including muscle strength and reflexes.
Patients presenting with muscle weakness and family history of muscular dystrophy.
Ensure genetic testing results are included in the documentation.
Genetic test results, family history, and inheritance patterns.
Counseling families with a history of LGMD and discussing genetic testing options.
Documentation must clearly outline the genetic basis of the condition.
Used when confirming diagnosis of LGMD due to calpain-3 dysfunction.
Documentation of clinical suspicion and family history.
Neurology and genetics specialists should collaborate on documentation.
Calpain-3 is crucial for muscle repair and function; its dysfunction leads to progressive muscle weakness characteristic of LGMD.
