Limb girdle muscular dystrophy due to anoctamin-5 dysfunction
ICD-10 G71.035 is a billable code used to indicate a diagnosis of limb girdle muscular dystrophy due to anoctamin-5 dysfunction.
Limb girdle muscular dystrophy (LGMD) due to anoctamin-5 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 ANO5 gene, which encodes the anoctamin-5 protein, essential for muscle function. Patients typically present with muscle weakness that may begin in childhood or early adulthood, often accompanied by muscle cramps and stiffness. Diagnosis is confirmed through genetic testing, muscle biopsy, and clinical evaluation. The condition is classified under muscular dystrophies, which are a group of inherited disorders that lead to muscle degeneration and weakness. Unlike myasthenia gravis, which affects the neuromuscular junction, LGMD due to anoctamin-5 dysfunction primarily involves muscle fibers themselves. Management focuses on physical therapy, supportive care, and monitoring for complications, as there is currently no cure for this condition.
Detailed neurological examination findings, genetic testing results, and muscle biopsy reports.
Patients presenting with progressive muscle weakness, family history of muscular dystrophy, and abnormal electromyography results.
Ensure clear documentation of muscle strength testing and functional limitations.
Genetic counseling notes, family history assessments, and results of genetic testing.
Patients with suspected hereditary muscular dystrophies requiring genetic confirmation.
Document the specific mutations identified and their implications for treatment and family planning.
Used when confirming a diagnosis of limb girdle muscular dystrophy.
Documentation of clinical suspicion and family history.
Neurology and genetics specialists should ensure comprehensive documentation.
The ANO5 gene is crucial for muscle function, and mutations in this gene lead to the specific form of limb girdle muscular dystrophy characterized by progressive muscle weakness.
