Congenital myopathies
ICD-10 G71.2 is a billable code used to indicate a diagnosis of congenital myopathies.
Congenital myopathies are a group of inherited muscle disorders characterized by muscle weakness and dysfunction due to structural abnormalities in muscle fibers. These conditions are present at birth or develop in early childhood and can vary significantly in severity and clinical presentation. Congenital myopathies include a range of disorders such as nemaline myopathy, central core disease, and congenital fiber type disproportion. Patients may present with hypotonia, delayed motor milestones, and muscle weakness. Diagnosis typically involves clinical evaluation, electromyography (EMG), muscle biopsy, and genetic testing. Management focuses on supportive care, physical therapy, and addressing specific symptoms. The prognosis varies widely depending on the specific type of myopathy and the extent of muscle involvement. Early diagnosis and intervention are crucial for optimizing outcomes and improving quality of life.
Detailed neurological examination findings, genetic test results, and treatment plans.
Diagnosis of congenital myopathy in infants presenting with hypotonia.
Ensure accurate documentation of muscle biopsy results and EMG findings.
Growth and developmental milestones, family history of neuromuscular disorders.
Monitoring and management of congenital myopathy in children.
Documenting multidisciplinary care approaches, including physical therapy.
Used to confirm diagnosis of congenital myopathy.
Document indication for biopsy and results.
Neurology or pathology specialties may be involved.
Common types include nemaline myopathy, central core disease, and congenital fiber type disproportion, each with distinct clinical features and genetic causes.
