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Neuromuscular disorders in infancy and childhood
A Vasanth1, M Gourie-Devi1, S Das1
1Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore - 560 029, India.
Neurology India
|March 8, 2018
Summary
Floppy infant syndrome in children has diverse causes, including spinal muscular atrophy and congenital muscular dystrophy. Comprehensive evaluation is key for accurate diagnosis and prognosis of this condition.
Area of Science:
- Neurology
- Pediatrics
- Pathology
Background:
- Floppy infant syndrome, characterized by decreased muscle tone, presents a diagnostic challenge in pediatrics.
- The etiology of infantile hypotonia is diverse, requiring thorough investigation for appropriate management.
Purpose of the Study:
- To investigate the etiological spectrum of floppy infant syndrome.
- To correlate clinical, electrophysiological, and histopathological findings for diagnosis and prognosis.
Main Methods:
- Clinical examination, electroneuromyography, and muscle biopsy were performed on 35 floppy infants.
- Muscle biopsies underwent routine histology, histochemistry, and electron microscopy for etiological diagnosis.
Main Results:
- Spinal muscular atrophy was the most common diagnosis (16 cases), followed by congenital muscular dystrophy (6 cases).
- Mitochondrial myopathy, congenital fiber type disproportion, acid mutase deficiency, and benign congenital hypotonia were also identified.
- Specific clinical and electrophysiological findings aided in diagnosing conditions like mitochondrial disease, Pompe's disease, and congenital myasthenia.
Conclusions:
- Floppy infant syndrome encompasses a wide range of neuromuscular disorders.
- Muscle pathology is crucial for definitive diagnosis, guiding prognosis and management.
- Infantile onset spinal muscular atrophy may not always indicate a poor prognosis.
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