Myotonic chondrodystrophy
ICD-10 G71.13 is a billable code used to indicate a diagnosis of myotonic chondrodystrophy.
Myotonic chondrodystrophy, also known as myotonic dystrophy type 1 (DM1), is a genetic disorder characterized by progressive muscle wasting and weakness, myotonia (delayed relaxation of muscles after contraction), and multisystem involvement. It is caused by a CTG repeat expansion in the DMPK gene located on chromosome 19. Patients typically present with muscle stiffness, weakness, and atrophy, particularly affecting the distal muscles. The condition can also lead to cardiac conduction defects, cataracts, and endocrine abnormalities. Diagnosis is often confirmed through genetic testing, which reveals the expanded CTG repeat. The severity of symptoms can vary widely among individuals, with some experiencing mild symptoms while others may have significant disability. Management focuses on symptomatic treatment, including physical therapy, occupational therapy, and monitoring for associated complications. Regular follow-up is essential to address the progressive nature of the disease and its systemic effects.
Detailed neurological examination findings, genetic testing results, and management plans.
Patients presenting with muscle weakness, myotonia, or family history of myotonic dystrophy.
Ensure comprehensive documentation of neurological assessments and any referrals to other specialties.
Genetic testing results, family history, and counseling notes.
Patients undergoing genetic testing for suspected myotonic dystrophy.
Document the rationale for testing and any implications for family members.
Used for confirming diagnosis of myotonic dystrophy.
Document the reason for testing and results.
Neurology and genetics should coordinate documentation.
Myotonic chondrodystrophy is primarily caused by a CTG repeat expansion in the DMPK gene, leading to muscle weakness and myotonia.
