Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
ICD-10 G12.0 is a billable code used to indicate a diagnosis of infantile spinal muscular atrophy, type i [werdnig-hoffman].
Infantile spinal muscular atrophy (SMA) type I, also known as Werdnig-Hoffman disease, is a severe genetic disorder characterized by the degeneration of motor neurons in the spinal cord and brainstem, leading to progressive muscle weakness and atrophy. This condition is caused by mutations in the SMN1 gene, which is essential for the survival of motor neurons. Symptoms typically present within the first six months of life and include hypotonia, weakness, and difficulty with feeding and breathing. Affected infants may exhibit a 'floppy' appearance due to muscle weakness and may have difficulty achieving developmental milestones such as sitting or crawling. The prognosis for SMA type I is poor, with many infants not surviving beyond the age of two years without intervention. Advances in treatment, including gene therapy and supportive care, have improved outcomes for some patients, but the condition remains a significant challenge in pediatric neurology. Early diagnosis through genetic testing and clinical evaluation is crucial for management and family counseling.
Detailed clinical history, genetic testing results, and multidisciplinary care notes.
Diagnosis confirmation, management of respiratory support, and coordination of care with physical therapy.
Ensure documentation reflects the severity of symptoms and any interventions provided.
Genetic testing results, family history, and counseling notes.
Genetic counseling for families, interpretation of genetic tests, and discussion of treatment options.
Accurate coding requires clear documentation of genetic findings and their implications for treatment.
Used for confirming diagnosis of SMA type I.
Genetic testing results must be documented in the patient's medical record.
Genetic specialists should ensure accurate coding based on test results.
Infantile spinal muscular atrophy is primarily caused by mutations in the SMN1 gene, which is crucial for motor neuron survival.
