Other inherited spinal muscular atrophy
ICD-10 G12.1 is a billable code used to indicate a diagnosis of other inherited spinal muscular atrophy.
Other inherited spinal muscular atrophy (G12.1) encompasses a group of genetic disorders characterized by progressive muscle weakness and atrophy due to the degeneration of motor neurons in the spinal cord and brainstem. Unlike the more common types of spinal muscular atrophy (SMA), such as SMA type I, II, and III, which are primarily caused by mutations in the SMN1 gene, G12.1 includes various rare forms of SMA that may be linked to different genetic mutations. These conditions can manifest at any age and may present with varying degrees of severity. Symptoms typically include muscle weakness, reduced muscle tone, and difficulties with movement and coordination. The pathophysiology involves the loss of anterior horn cells in the spinal cord, leading to muscle denervation and subsequent atrophy. Diagnosis is often confirmed through genetic testing, electromyography, and clinical evaluation. Management focuses on supportive care, including physical therapy, nutritional support, and respiratory care, as there is currently no cure for these inherited conditions.
Detailed clinical notes including neurological examination findings, genetic testing results, and treatment plans.
Diagnosis of inherited spinal muscular atrophy in pediatric and adult patients, management of symptoms, and coordination of multidisciplinary care.
Ensure accurate documentation of the specific type of SMA and any associated genetic findings.
Genetic test results, family history, and detailed patient assessments.
Evaluation of patients with suspected genetic disorders, counseling families about inheritance patterns, and discussing potential interventions.
Documentation must clearly outline the genetic basis of the condition to support coding.
Used during initial evaluations for patients with G12.1 to assess overall health and risks.
Complete health risk assessment form and clinical notes.
Neurology specialists should ensure comprehensive assessments are documented.
G12.1 refers to other inherited forms of spinal muscular atrophy not classified under the more common types, such as G12.0, which specifically denotes spinal muscular atrophy type I.
