Limb girdle muscular dystrophy due to sarcoglycan dysfunction
ICD-10 G71.034 is a billable code used to indicate a diagnosis of limb girdle muscular dystrophy due to sarcoglycan dysfunction.
Limb girdle muscular dystrophy (LGMD) due to 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 genes responsible for the production of sarcoglycan proteins, which are essential for muscle cell membrane integrity. Patients typically present with muscle weakness that may begin in childhood or adolescence, leading to difficulties in walking, climbing stairs, and performing daily activities. As the disease progresses, individuals may experience muscle atrophy and joint contractures. Diagnosis is confirmed through genetic testing, muscle biopsy, and clinical evaluation. Management focuses on physical therapy, occupational therapy, and supportive care to maintain mobility and function. Understanding the genetic basis of this condition is crucial for family counseling and potential future therapies.
Detailed neurological examination findings, genetic testing results, and muscle biopsy reports.
Diagnosis confirmation, management of symptoms, and referrals for physical therapy.
Ensure accurate documentation of muscle strength and functional limitations.
Family history, genetic test results, and counseling notes.
Genetic counseling for affected families and interpretation of genetic tests.
Document the implications of genetic findings for family members.
Used when confirming diagnosis of LGMD due to sarcoglycan dysfunction.
Documentation of clinical indications for genetic testing.
Neurology and genetics specialists should ensure comprehensive documentation.
It is primarily caused by mutations in genes responsible for sarcoglycan protein production, leading to muscle cell membrane instability.
