Other centronuclear myopathy
ICD-10 G71.228 is a billable code used to indicate a diagnosis of other centronuclear myopathy.
Centronuclear myopathy (CNM) is a rare genetic muscle disorder characterized by the presence of centrally located nuclei in muscle fibers. It is classified under myopathies, which are diseases that affect muscle tissue. CNM can manifest in various forms, with symptoms ranging from mild muscle weakness to severe disability. The condition is often inherited in an X-linked manner, particularly in males, but can also occur in females. Patients typically present with muscle weakness, hypotonia, and delayed motor milestones. Other associated features may include respiratory difficulties and scoliosis. Diagnosis is primarily based on clinical evaluation, muscle biopsy, and genetic testing to identify mutations in genes such as DNM2, MTM1, and others. Management focuses on supportive care, including physical therapy and respiratory support, as there is currently no cure for the condition. Understanding the nuances of centronuclear myopathy is crucial for accurate coding and appropriate patient management.
Comprehensive neurological examination findings, genetic testing results, and family history.
Patients presenting with unexplained muscle weakness, hypotonia in infants, or progressive muscle weakness in adults.
Ensure detailed documentation of neurological assessments and any associated symptoms.
Genetic test results, family pedigree, and detailed clinical notes regarding inheritance patterns.
Referral for genetic counseling after diagnosis, family testing for at-risk relatives.
Document the rationale for genetic testing and any implications for family members.
Used when genetic testing is performed to confirm a diagnosis of centronuclear myopathy.
Document the reason for testing, results, and any implications for treatment.
Neurology and genetics specialists should ensure thorough documentation of clinical findings.
Centronuclear myopathy is a rare genetic disorder characterized by muscle weakness and the presence of centrally located nuclei in muscle fibers. It can lead to varying degrees of disability and requires careful management.
