Spinal muscular atrophy and related syndromes
Chapter 6:Diseases of the nervous system
ICD-10 G12 is a billable code used to indicate a diagnosis of spinal muscular atrophy and related syndromes.
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the degeneration of motor neurons in the spinal cord and brainstem, leading to progressive muscle weakness and atrophy. It is primarily caused by mutations in the SMN1 gene, which is crucial for the survival of motor neurons. The severity of SMA varies, with types ranging from severe infantile-onset forms to milder adult-onset forms. Related syndromes include conditions such as Kennedy's disease (spinal and bulbar muscular atrophy) and other hereditary motor neuron diseases. These conditions can present with symptoms such as muscle weakness, atrophy, and respiratory difficulties. Diagnosis typically involves genetic testing, electromyography, and clinical evaluation. Management focuses on supportive care, physical therapy, and, in some cases, disease-modifying therapies. Understanding the genetic basis and clinical manifestations is essential for accurate coding and treatment planning.
Detailed neurological examination findings, genetic testing results, and treatment plans.
Diagnosis of SMA in pediatric patients, management of adult-onset SMA, and evaluation of related motor neuron diseases.
Ensure comprehensive documentation of neurological deficits and progression to support coding.
Genetic test results, family history, and counseling notes.
Genetic counseling for families with a history of SMA, interpretation of genetic tests.
Accurate coding requires clear documentation of genetic findings and their implications for the patient.
Used for assessing the overall health and risks in SMA patients.
Document patient history, risk factors, and assessment findings.
Neurology specialists should ensure comprehensive assessments are documented.
SMA type 1 is characterized by onset before 6 months of age and severe weakness, while type 2 typically presents between 6 and 18 months with less severe symptoms and the ability to sit independently.
