Limb girdle muscular dystrophy due to beta sarcoglycan dysfunction
ICD-10 G71.0342 is a billable code used to indicate a diagnosis of limb girdle muscular dystrophy due to beta sarcoglycan dysfunction.
Limb girdle muscular dystrophy (LGMD) due to beta 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 gene responsible for producing beta sarcoglycan, a protein that plays a crucial role in maintaining muscle cell integrity. Patients typically present with muscle weakness that may begin in childhood or adolescence, often leading to difficulty in walking, climbing stairs, and performing daily activities. As the disease progresses, individuals may experience muscle atrophy and may require mobility aids. Diagnosis is confirmed through genetic testing, muscle biopsy, and clinical evaluation. Management focuses on supportive care, physical therapy, and monitoring for complications such as respiratory issues and scoliosis. Understanding the genetic basis of this condition is essential for counseling families and considering potential future therapies, including gene therapy.
Detailed neurological examination findings, genetic testing results, and muscle biopsy reports.
Patients presenting with progressive muscle weakness, difficulty in mobility, and family history of muscular dystrophy.
Ensure accurate documentation of muscle groups affected and progression of symptoms.
Genetic test results, family history, and counseling notes.
Families seeking genetic counseling after a diagnosis of LGMD.
Documentation should include the implications of genetic findings for family members.
Used when confirming a diagnosis of LGMD due to beta sarcoglycan dysfunction.
Documentation of clinical findings and rationale for genetic testing.
Neurology and genetics specialists should ensure comprehensive documentation to support testing.
Beta sarcoglycan is a critical protein for muscle cell membrane stability. Dysfunction leads to muscle degeneration and weakness characteristic of limb girdle muscular dystrophy.
