Limb girdle muscular dystrophy due to dysferlin dysfunction
ICD-10 G71.033 is a billable code used to indicate a diagnosis of limb girdle muscular dystrophy due to dysferlin dysfunction.
Limb girdle muscular dystrophy (LGMD) due to dysferlin 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 DYSF gene, which encodes the protein dysferlin, essential for muscle membrane repair. Patients typically present with muscle weakness in the late childhood to early adulthood period, often accompanied by muscle cramps and pain. The disease progresses variably, with some individuals experiencing significant disability while others maintain mobility into later life. Diagnosis is confirmed through genetic testing and muscle biopsy, which may show signs of myopathy. Dysferlinopathies are part of a broader category of muscular dystrophies, which also includes conditions like Duchenne and Becker muscular dystrophies. Management focuses on physical therapy, supportive care, and monitoring for complications such as respiratory issues or cardiomyopathy. Early diagnosis and intervention can help improve quality of life and functional outcomes.
Detailed neurological examination findings, genetic testing results, and muscle biopsy reports.
Patients presenting with progressive muscle weakness, difficulty climbing stairs, or frequent falls.
Ensure that all muscle groups affected are documented, and consider referrals to genetic counseling.
Functional assessments, therapy progress notes, and patient mobility evaluations.
Rehabilitation plans for patients with muscle weakness and mobility issues.
Document the impact of muscle weakness on daily activities and the need for assistive devices.
Used when confirming a diagnosis of dysferlinopathy.
Document the reason for testing and the specific mutations being analyzed.
Neurology and genetics specialists should collaborate on testing.
The dysferlin gene is crucial for muscle membrane repair. Mutations in this gene lead to the characteristic muscle weakness seen in limb girdle muscular dystrophy due to dysferlin dysfunction.
