Limb girdle muscular dystrophy due to alpha sarcoglycan dysfunction
ICD-10 G71.0341 is a billable code used to indicate a diagnosis of limb girdle muscular dystrophy due to alpha sarcoglycan dysfunction.
Limb girdle muscular dystrophy (LGMD) due to alpha sarcoglycan 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 SGCA gene, which encodes the alpha-sarcoglycan protein, essential for muscle cell membrane stability. Patients typically present with muscle weakness that may begin in childhood or adolescence, often accompanied by muscle cramps and pseudohypertrophy. Diagnosis is confirmed through genetic testing and muscle biopsy, which may show dystrophic changes. The progression of the disease varies, with some individuals maintaining ambulation into adulthood while others may require mobility aids. Management focuses on physical therapy, supportive care, and monitoring for respiratory and cardiac complications, which are common in advanced stages of the disease.
Detailed neurological examination findings, genetic testing results, and treatment plans.
Diagnosis confirmation, management of symptoms, and coordination with physical therapy.
Ensure comprehensive documentation of neurological deficits and muscle strength assessments.
Genetic testing results, family history, and counseling notes.
Genetic counseling for affected families and interpretation of genetic tests.
Document the implications of genetic findings for family members and potential future pregnancies.
Used when genetic testing is performed to confirm alpha sarcoglycan dysfunction.
Document the reason for testing, results, and any counseling provided.
Ensure that genetic counseling notes are included in the patient's record.
The primary cause is mutations in the SGCA gene, which leads to a deficiency of the alpha-sarcoglycan protein, crucial for muscle cell membrane stability.
