Myotonic muscular dystrophy
ICD-10 G71.11 is a billable code used to indicate a diagnosis of myotonic muscular dystrophy.
Myotonic muscular dystrophy (MMD) is a genetic disorder characterized by progressive muscle wasting and weakness, particularly affecting the skeletal muscles. It is caused by mutations in the DMPK gene (for MMD type 1) or the CNBP gene (for MMD type 2), leading to an abnormal expansion of nucleotide repeats. Patients typically present with myotonia, which is the inability to relax muscles after contraction, and muscle weakness that may begin in the face, neck, and distal limbs. Other systemic manifestations can include cardiac conduction defects, cataracts, and endocrine abnormalities. Diagnosis is often confirmed through genetic testing, electromyography (EMG), and clinical evaluation. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for the disease to manifest. Management focuses on symptomatic relief, physical therapy, and monitoring for complications, particularly cardiac issues. Due to its genetic basis, family history plays a crucial role in diagnosis and counseling.
Detailed neurological examination findings, including muscle strength and tone assessments.
Patients presenting with muscle weakness, myotonia, or unexplained fatigue.
Ensure documentation includes family history and genetic testing results.
Genetic test results, family pedigree, and counseling notes.
Patients undergoing genetic testing for suspected myotonic dystrophy.
Document the rationale for testing and any implications for family members.
Used when confirming diagnosis through genetic testing.
Document the reason for testing and results.
Neurology and genetics specialists should ensure thorough documentation.
Myotonic muscular dystrophy is primarily caused by genetic mutations in the DMPK gene or the CNBP gene, leading to muscle weakness and myotonia.
