Spinal muscular atrophy, unspecified
ICD-10 G12.9 is a billable code used to indicate a diagnosis of spinal muscular atrophy, unspecified.
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the progressive degeneration of motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. The condition is caused by mutations in the SMN1 gene, which is essential for the survival of motor neurons. SMA can present in various forms, with the most common types being Type 1 (Werdnig-Hoffmann disease), Type 2, and Type 3. The unspecified designation (G12.9) is used when the specific type of SMA is not documented or when the clinical presentation does not fit neatly into the established categories. Patients may exhibit symptoms such as muscle weakness, reduced muscle tone, and difficulty with motor skills. The severity and age of onset can vary significantly, impacting the patient's quality of life and functional abilities. Early diagnosis and intervention are crucial for managing symptoms and improving outcomes, including the use of therapies like nusinersen and onasemnogene abeparvovec, which target the underlying genetic defect.
Detailed neurological examination findings, genetic testing results, and treatment plans.
Diagnosis of SMA in pediatric patients, management of symptoms in adults with SMA.
Neurologists should ensure that the type of SMA is clearly documented to avoid coding errors.
Results of genetic testing and family history of SMA.
Counseling families about the genetic implications of SMA.
Geneticists must document the specific mutations identified to support accurate coding.
Used during initial evaluations of patients with SMA to assess functional status.
Document the assessment findings and any interventions planned.
Neurologists should ensure that assessments are comprehensive to support ongoing care.
G12.9 should be used when the specific type of spinal muscular atrophy is not documented in the medical record or when the clinical presentation does not fit a specific type.
