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Muscle ultrasonography and electromyography correlation for evaluation of floppy infants
Nur Aydinli1, Bariş Baslo, Mine Calişkan
1Division of Paediatric Neurology, Department of Paediatrics, Istanbul University Istanbul Medical Faculty, Capa 34390, Istanbul, Turkey. n.aydinli@attglobal.net
Insights
Muscle ultrasonography (US) and electromyography (EMG) show high concordance in diagnosing floppy infants with neurogenic or myopathic disorders. These non-invasive tests aid in identifying causes of infant floppiness.
Area of Science:
- Pediatric Neurology
- Diagnostic Imaging
- Clinical Electrophysiology
Background:
- Infant floppiness (hypotonia) presents a diagnostic challenge with diverse etiologies.
- Accurate diagnosis is crucial for timely intervention in floppy infants.
Purpose of the Study:
- To evaluate the correlation between muscle ultrasonography (US) and electromyography (EMG) in diagnosing floppy infants.
- To assess the utility of US and EMG in differentiating neurogenic and myopathic causes of hypotonia.
Main Methods:
- Prospective study of 41 floppy infants (2-24 months).
- Muscle US and EMG performed blinded to clinical diagnosis.
- Final diagnosis confirmed by genetic testing or biopsy.
Main Results:
- High concordance between US and EMG findings for neurogenic and myopathic disorders.
- US and EMG identified 16 infants with neurogenic disorders (spinal muscular atrophy, polyneuropathy) and 6 with myopathic disorders (congenital muscular dystrophy, glycogen storage disease).
- Central hypotonia identified in 17 infants with normal US/EMG but abnormal other tests.
Conclusions:
- Muscle US and EMG are valuable, concordant tools in the diagnostic work-up of floppy infants.
- These electrophysiological and imaging techniques aid in distinguishing between primary muscle and nerve disorders.
Abstract:
Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies. In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants. The study encompassed 41 floppy infants aged 2-24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final diagnosis was established by molecular genetic tests or muscle/nerve biopsy. The neurogenic group consisted of 16 infants according to their US and EMG findings. Fifteen of them had spinal muscular atrophy proven by genetic analysis and one had polyneuropathy diagnosed by nerve biopsy. Six infants were in the myopathic group according to their muscle US and EMG results. All of them underwent muscle biopsy and microscopic examination revealed five congenital muscular dystrophy and one glycogen storage disease. In two infants the US and EMG data conflicted. Their biopsies were also insufficient for the diagnosis. Seventeen infants had normal US and EMG findings but pathologic cranial magnetic resonance imaging or metabolic/genetic tests. They were considered in the group of central hypotonia. Our results suggest a high concordance of US and EMG findings in the diagnostic work-up of neurogenic and myopathic disorders.