[Ultrasound of muscular diseases in children and adolescents].

BACKGROUND: The increasing number of treatable hereditary neuromuscular diseases in children requires a diagnostic tool that can quickly, safely, and noninvasively identify affected patients directly after birth or when showing initial clinical symptoms. With clinical analysis alone, this is very difficult.

IMAGING MODALITY: Near-field sonography of skeletal muscles has gradually become established as a successful method over the last 35 years.

METHODOLOGICAL INNOVATIONS: Examination is performed using a strictly standardized protocol in isotopic muscle regions and with standardized sections and application parameters. Interpretation is performed with specific assessment criteria and nomenclature for the description of normal and pathological muscle architecture and echogenicity. This is sonographic tissue characterization.

PERFORMANCE: Using case studies, the sonoanatomy and sonopathology of selected myo- and neuropathies, metabolic, inflammatory, and other lesions are illustrated. We present their differential diagnosis by texture and echogenicity analysis. Affected persons are identified in 70% up to 100% of cases, depending on the entity; specificity is less dependent on experience and training. Of the 12 disorders presented in this article, 6 are causally/symptomatically treatable today.

ACHIEVEMENTS: Standardized myosonography is the imaging modality of first choice for detection of neuromuscular diseases.

PRACTICAL RECOMMENDATIONS: High frequency (8-22 MHz) linear array transducer. Highly standardized examination modality. Simultaneous, paired comparison of affected persons and controls. If necessary, muscle tissue biopsy only after ultrasonic determination of a suitable area.