Spinal Muscular Atrophy: Diagnostic Tests

Obligatory medical device diagnostics.

  • Electromyography (EMG; measurement of electrical muscle activity).
  • Electrophysiological examination – due todifferential diagnosis of other neurogenetic diseases.
  • Measurement of nerve conduction velocity (NLG) – to determine the total activity of muscle fibers.

Optional medical device diagnostics – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification.

  • X-ray of the thorax (X-ray thorax/chest), in two planes – especially in cases of differential diagnostic ambiguity, severe disease, or concomitant diseases (risk factors) [evidence of a pulmonary infiltrate; the surest radiological sign of an infiltrate is the air bronchogram, also referred to as a positive “air bronchogram”; this is due to the fact that air-filled bronchi in this area stand out from the surrounding area] [due toHeart failure (cardiac insufficiency), cardiomyopathy (heart muscle disease), coronary heart disease (CHD; coronary artery disease), pneumonia (pneumonia), aspiration pneumonia (pneumonia caused by inhalation of foreign substances (in this case: stomach contents)) and respiratory insufficiency (respiratory weakness)].
  • Computed tomography or magnetic resonance imaging of the thorax (thoracic CT; thoracic MRI) – in complicating courses [due toheart failure, cardiomyopathy, pneumonia, aspiration pneumonia and respiratory failure].
  • Lung ultrasonography (synonyms: lung ultrasound; lung ultrasonography (LUS)) – for suspected pneumonia in children (as an alternative to chest X-ray) [due toaspiration pneumonia, pneumonia and respiratory insufficiency]