Centronuclear myopathy
ICD-10 G71.22 is a billable code used to indicate a diagnosis of centronuclear myopathy.
Centronuclear myopathy (CNM) is a rare genetic muscle disorder characterized by muscle weakness and hypotonia due to the abnormal distribution of nuclei in muscle fibers. It is primarily caused by mutations in genes such as MTM1, DNM2, and others, leading to impaired muscle function. Patients typically present with muscle weakness that may affect proximal muscles more than distal ones, resulting in difficulties with activities such as climbing stairs or lifting objects. The condition can manifest at any age, but symptoms often appear in infancy or early childhood. CNM is classified under myopathies, which are disorders affecting muscle tissue, and can be associated with other neuromuscular junction disorders, such as myasthenia gravis, where the communication between nerves and muscles is disrupted. Diagnosis is usually confirmed through genetic testing, muscle biopsy, and clinical evaluation. Management focuses on supportive care, physical therapy, and addressing specific symptoms, as there is currently no cure for the condition.
Detailed neurological examination findings, genetic testing results, and muscle biopsy reports.
Patients presenting with unexplained muscle weakness, hypotonia in infants, or progressive muscle weakness in older children.
Ensure clear documentation of muscle strength testing and any associated neurological symptoms.
Genetic testing results, family history of neuromuscular disorders, and detailed patient history.
Patients with a family history of muscle disorders or those presenting with symptoms suggestive of genetic myopathy.
Accurate documentation of genetic mutations and their implications for treatment and prognosis.
Used when genetic testing is performed to confirm a diagnosis of centronuclear myopathy.
Documentation of clinical indications for testing and results.
Neurology and genetics specialists should ensure that the rationale for testing is clearly documented.
Centronuclear myopathy is a rare genetic muscle disorder characterized by muscle weakness and hypotonia due to abnormal nuclear distribution in muscle fibers.
Diagnosis is made through clinical evaluation, muscle biopsy, and genetic testing to identify specific mutations associated with the condition.
