Neonatal hypotonia is a state of poor muscle tone at rest that is characterised by a “rag doll” feel, poor sucking, a weak cry, and increased joint mobility. It may or may not involve muscle weakness.
Causes of neonatal hypotonia
| Category | Causes |
|---|---|
| Central causes | HIE, brain malformations |
| Syndromic causes | Down syndrome, Prader-Willi syndrome, Marfan syndrome, Turner syndrome, Dysautonomia |
| Degenerative causes | Tay-Sachs disease, metachromatic leukodystrophy |
| Systemic and metabolic disease | Malnutrition, hypothyroidism, hypercalcaemia, Lowe’s disease, Pompe’s disease, Leigh’s disease |
| Lower motor neuron causes | Spinal muscular atrophy, infantile botulism, myasthenia gravis, myotonic dystrophy type I, neonatal congenital myopathy, congenital muscular dystrophy, hypomyelinating infantile neuropathy, benign congenital hypotonia |
| Other causes | Sepsis, aminoglycoside toxicity, magnesium toxicity |
Causes according to the neuraxial level
| Type | Conditions / Examples |
|---|---|
| Central | Down syndrome, Prader-Willi, peroxisomal disorders, metabolic disorders, HIE |
| Motor Neuron | Spinal muscular atrophy |
| Neuromuscular Junction | Congenital myasthenic syndrome, transient neonatal myasthenia gravis, botulism |
| Myopathies | Congenital muscular dystrophies, congenital myopathies (nemaline, central core, myotubular) |
| Drug or Toxin | Aminoglycosides, magnesium |
| Metabolic or Endocrine | Pompe disease, hypothyroidism |
- Signs and symptoms
- Inverted “U” on horizontal suspension
- Scarf sign – the elbows cross the midline easily
- Persistent head lag on pull-to-sit – axial hypotonia
- Infant slips through hands in vertical suspension – appendicular hypotonia
- Investigations
- Complete blood count
- Metabolic panel
- Magnesium levels
- Drug screen
- Creatine kinase
- Gentic testing
- EMG to differentiate neuropathy, myopathic, and neuromuscular junction disorders
- Muscle biopsy if EMG is myopathic
- MRI for structural defects
- Treatment
- Rehabilitaiton
- Nutritional support
- Respiratory support
- Specific therapies
- Genetic counseling and parental education