Duchenne Muscular Dystrophy (DMD) diagnosis: Find information on Duchennes Muscular Dystrophy clinical documentation, medical coding, and healthcare resources. Learn about DMD symptoms, genetic testing, and treatment options. This resource provides guidance for accurate DMD medical coding and best practices for documenting Duchenne Muscular Dystrophy in patient charts.
Also known as
Duchenne muscular dystrophy
Genetic disorder causing progressive muscle degeneration.
Becker muscular dystrophy
Similar to Duchenne, but with later onset and slower progression.
Emery-Dreifuss muscular dystrophy
Muscular dystrophy affecting muscles of the shoulders, upper arms, and shins.
Muscle weakness (generalized)
Generalized muscle weakness, which can be a symptom of DMD.
Follow this step-by-step guide to choose the correct ICD-10 code.
Is the diagnosis confirmed Duchenne Muscular Dystrophy?
Yes
Is there any cardiomyopathy present?
No
Do not code as Duchenne Muscular Dystrophy. Review medical record for alternative diagnosis.
When to use each related code
| Description |
|---|
| Progressive muscle degeneration, primarily affecting males. |
| Milder variant of DMD with later onset and slower progression. |
| Group of inherited muscle disorders causing progressive muscle weakness. |
Coding DMD without specifying the genetic mutation (e.g., exon deletion) can lead to inaccurate severity and treatment reflection.
Misdiagnosis between DMD and Becker MD (BMD) due to similar symptoms can result in incorrect coding and care plans.
Failing to accurately document and code carrier status in females can impact genetic counseling and family planning.
Q: What are the latest diagnostic criteria for Duchenne Muscular Dystrophy (DMD) in pediatric patients, and how can genetic testing differentiate it from Becker Muscular Dystrophy?
A: Diagnosing Duchenne Muscular Dystrophy (DMD) in pediatric patients involves a combination of clinical findings, family history, and genetic testing. Clinicians should look for progressive muscle weakness, typically starting in the pelvic girdle and lower limbs, often manifesting as Gowers' sign or difficulty running and jumping. Elevated serum creatine kinase (CK) levels are also highly indicative. Genetic testing, specifically multiplex PCR or MLPA targeting the dystrophin gene, is essential for confirming the diagnosis and distinguishing DMD from Becker Muscular Dystrophy (BMD). DMD typically presents with out-of-frame deletions or nonsense mutations leading to a nonfunctional dystrophin protein, while BMD is characterized by in-frame deletions that result in a partially functional protein. This distinction is crucial for prognosis and management. Explore how genetic testing options can enhance DMD diagnostic accuracy. Consider implementing early genetic screening for at-risk families.
Q: How can clinicians effectively manage Duchenne's Muscular Dystrophy (DMD) progression and improve quality of life for patients using the most current standards of care?
A: Effectively managing Duchenne Muscular Dystrophy (DMD) progression requires a multidisciplinary approach incorporating the latest standards of care. Glucocorticoids, such as prednisone or deflazacort, remain the mainstay of treatment, improving muscle strength and function. Newer therapies, including exon skipping and stop codon readthrough, target the genetic basis of the disease and offer potential for slowing or even halting disease progression for specific genetic subtypes. In addition to pharmacological interventions, physical therapy, respiratory support, and cardiac monitoring are essential for managing symptoms and improving quality of life. Regular pulmonary function tests and cardiac evaluations are critical for early detection and management of potential complications. Learn more about the latest advances in DMD management and consider implementing a comprehensive care plan encompassing both pharmacological and supportive therapies.
Patient presents with signs and symptoms consistent with Duchenne Muscular Dystrophy (DMD). The patient, a [age]-year-old male, exhibits progressive muscle weakness, particularly affecting the proximal muscles of the lower extremities. Gower's sign is positive, demonstrating difficulty rising from a sitting or lying position. Calf pseudohypertrophy is noted bilaterally. The patient reports frequent falls and difficulty with ambulation. Delayed developmental milestones in gross motor skills were also reported. Family history is significant for [mention specific family history related to DMD or neuromuscular disorders, or specify "no known family history"]. Creatine kinase (CK) levels are markedly elevated. Genetic testing is indicated to confirm the diagnosis of DMD by detecting mutations in the dystrophin gene. Differential diagnosis includes Becker muscular dystrophy, limb-girdle muscular dystrophy, and other neuromuscular disorders. The patient will be referred to a pediatric neurologist specializing in neuromuscular disorders for further evaluation and management. Initial treatment plan includes corticosteroids to slow disease progression, physical therapy to maintain muscle strength and function, and respiratory support as needed. Genetic counseling will be provided to the family. Prognosis and long-term management strategies will be discussed with the patient and family following confirmatory diagnostic testing. ICD-10 code G71.01 (Duchenne muscular dystrophy) is applied. CPT codes for genetic testing and other relevant procedures will be documented upon completion of those services. Follow-up appointments are scheduled for regular monitoring of disease progression and adjustment of the treatment plan as necessary.