Progressive spinal muscle atrophy
ICD-10 G12.25 is a billable code used to indicate a diagnosis of progressive spinal muscle atrophy.
Progressive spinal muscle atrophy (PSMA) is a rare neurodegenerative disorder characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. It is classified as a type of motor neuron disease and is often hereditary, with genetic mutations playing a significant role in its pathogenesis. Patients typically present with progressive weakness, muscle wasting, and fasciculations, primarily affecting the proximal muscles of the limbs and trunk. Unlike amyotrophic lateral sclerosis (ALS), PSMA does not usually involve upper motor neuron signs, which can aid in differential diagnosis. The onset of symptoms often occurs in adulthood, and the progression can vary significantly among individuals. Diagnosis is primarily clinical, supported by electromyography (EMG) findings and genetic testing to identify specific mutations, such as those in the survival motor neuron (SMN) gene. Management focuses on supportive care, including physical therapy and nutritional support, as there is currently no cure for the condition.
Comprehensive neurological examination findings, including muscle strength assessments and EMG results.
Patients presenting with unexplained muscle weakness, atrophy, or fasciculations.
Ensure documentation reflects the absence of upper motor neuron signs to differentiate from ALS.
Genetic testing results and family history of hereditary conditions.
Patients with a family history of motor neuron diseases undergoing genetic counseling.
Document specific genetic mutations identified to support coding.
Used to confirm lower motor neuron involvement in suspected PSMA.
Document findings of muscle weakness and atrophy, along with EMG results.
Neurologists should ensure EMG findings correlate with clinical symptoms.
The primary symptom is progressive muscle weakness, particularly in the proximal muscles, leading to atrophy and fasciculations.
