Floppy baby syndrome is a condition, which is characterized by abnormal and reduced muscle tone, along with muscle weakness. It could be associated with diseases and disorders, that are congenital or acquired. The medical term for this condition is 'hypotonia', which is also known as benign congenital hypotonia, congenital hypotonia, myotonia congenita, infantile hypotonia and congenital muscle weakness. Usually, this condition is detected during the infancy itself, but, at present, there is no cure for floppy baby syndrome. Though this disorder is uncommon, most of the affected babies are found to be severely paralyzed and may even fail to survive.
Floppy baby syndrome or hypotonia is defined as a condition with reduced muscle tone and muscle weakness. It is usually associated with diseases and disorders that affect motor nerve control, thereby causing muscle weakness. The diseases and disorders associated with this syndrome could be either congenital or acquired. They may include autoimmune disorders, certain genetic conditions, infections, exposure to toxins, neurological problems and metabolic disorders. The following are some of the common causes of this condition.
- Down syndrome, Krabbe disease, Prader-Willi syndrome, Aicardi syndrome
- Myasthenia gravis, Kernicterus, Brain injury, Muscular dystrophy, Meningitis
- Hypothyroidism, Rett syndrome, Poliomyelitis, Rickets, Developmental dyspraxia
- Infant Botulism, Marfan's syndrome, Spinal muscular atrophy, Metachromatic leukodystrophy
- Tay-Sachs disease, Sepsis, Canavan disease, Hypervitaminosis
Congenital genetic disorders are said to be the most common causes for this syndrome. It has been observed that this condition is mainly associated with Down syndrome. Even myasthenia gravis and muscular dystrophy are among the common causes for this syndrome. Sometimes, floppy baby syndrome exists along with the causal diseases, whereas in some other cases, the causal disease leads to this condition indirectly.
Babies with this condition resemble rag dolls, in the sense that they lack muscle strength. As you hold them, they feel loose in your hands and may even slip. While normal infants can be lifted by holding them under their armpits, this may prove difficult for babies with floppy baby syndrome. In such cases, the baby may slip out of your hold, as their arms raise upward due to muscle weakness. In short, such babies lack the required muscle strength to maintain a posture or hold on to something and usually exhibit uncontrolled head movements. The symptoms depend on the underlying cause, severity of the condition, age and the type of muscles affected. The following are some of the general symptoms of this condition.
- Lethargy, reduced muscle tone
- Poor or no head control
- Loose limbs, flexible joints
- Drooling, feeble cry
- Poor attention
- Difficulty feeding, poor reflexes
- Speech problems
- Decreased activities
- Developmental delay
The symptoms may vary from one patient to another, as per the severity and underlying cause. This condition is often detected during infancy and early diagnosis is found to be beneficial in treatment. Diagnosis is often done with tests like MRI scans, CT scan, electromyography, genetic tests and biopsy of muscles and/or nerves.
How is it Treated
Hypotonia treatment is decided as per the severity, cause and age of the affected person. In fact, there is no cure for this condition. The available treatments may either improve the muscle tone or enable the patient to cope up with the condition. However, in case of infants with conditions like cerebellar dysfunction or motor neuron diseases, floppy baby syndrome can worsen and may also become life-threatening. It is very difficult to zero in on the underlying cause. If it is detected, then, the treatment would be aimed at the cause. If the cause is not detected, then, symptomatic and supportive therapies are recommended.
Physical therapy, occupational therapy and speech and language therapy are prescribed for tackling this syndrome. It may happen that some parents fail to notice the symptoms of this condition in their newborn. So, it is always better to gain some knowledge about the normal reflexes of a baby. Monitor your newborn and if you notice anything abnormal, take the baby to the pediatrician, immediately. One of the important infantile reflexes is sucking the breast or bottle, while feeding. If the baby fails to do so, it could be a warning sign.
Floppy baby syndrome is one such condition, which does not have a treatment that can guarantee complete cure. So, studies are still being conducted in this regard. Recently, a team of Australian researchers came up with a suggestion that the protein named heart actin may prove useful in treating this syndrome. Heart actin is nothing other than actin produced by the heart muscles, during the fetal stage.
Infants with this syndrome fail to produce another protein called actin, in their skeletal muscles. This protein (called actin) plays a key role in muscle contractions. Production of actin in the skeletal muscles is controlled by the gene named ACTA1. Those with this condition have a faulty version of this gene, and thus no actin is produced in their skeletal muscles.
While some newborns with floppy baby syndrome are completely paralyzed at birth, others are not. It has been revealed by these scientists that in latter cases, the skeletal muscles were found to have heart actin (there was no actin). In such babies, small amount of heart actin was found in the skeletal muscles, at the time of birth. Once the child is born, heart actin disappears from the skeletal muscles. So, it is the heart actin that is believed to function like actin, in skeletal muscles. So, it has been suggested that heart actin may help a lot in improving the condition of babies with this syndrome. This was proved right in animal studies.
Scientists used heart actin in lieu of missing skeletal actin, in mice. Normal muscle function was restored and the rodents lived a healthy life. Now, studies are underway to come up with medicines that can increase the rate of heart actin in human skeletal muscles, so that floppy baby syndrome can be treated effectively.
So, if you notice any such symptoms in your baby, take him/her to a pediatrician at the earliest to rule out the possibility of hypotonia.
Disclaimer: This article is for informational purposes only and should not be used as a replacement for expert medical advice. Visiting your physician is the safest way to diagnose and treat any health condition.