Baby Development

What is Loose Baby (Hypotonia)?

What is Loose Baby (Hypotonia)?



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What is Loose Baby (Hypotonia)?

Nowadays can be seen in every 6000 births loose baby syndromeis a disease that affects infants and symptoms are becoming noticeable in infancy. Loose infant syndrome is defined as a decrease in the muscle resistance of the baby's body against gravity and consequently the emergence of muscle laxity.

Another name is hypotonia. hypotoniais a syndrome with different varieties and different symptoms for each variety. The severity of the disease varies according to the type and the treatment varies according to the type.

What are the Symptoms of Loose Baby Syndrome?

To a baby loose baby Before the diagnosis is made, some symptoms should be examined. The main symptoms encountered in this syndrome are;

  • The most prominent feature is that the baby lies in the frog position. (legs open sideways)
  • The baby curls outward and cannot control the muscles.
  • Hand, arm and leg mobility decreases in children with loose infant syndrome.
  • The baby cannot control the head, the head falls to the side or back.
  • B12 and vitamin D deficiency is seen.
  • The feet of the loose baby may touch the chin.
  • Response to environmental stimuli is reduced.
  • When you pull yourself to the half sitting position, holding the hands, the baby's head falls back.
  • When you lay the baby face down on your hand, it slides down from your hand.
  • When you lift the loose baby by holding it under the arms, the head falls forward and slips away from your hands.
  • In addition, infants with hypotonia may have symptoms such as weakness, chewing, swallowing and difficulty breathing.

What are the types of hypotonia?

hypotonicrefers to hypotonia in children with loose infant syndrome.

Hypotonic babies cannot carry their own weight. Thin muscle motor skills of these babies are retarded.

It is observed that infants with low muscle resistance in the body are unable to hold and control their heads, and fail in walking and sitting actions.

There are varieties of hypotonia; these are divided into two groups as hypotonia causing diseases.

  1. Central Hypotonia: It is a nonparalytic group that is not accompanied by significant muscle weakness.
  2. Peripheral Hypotonia: It is the group with paralytic, extracerebral laxity, paralysis in which muscle weakness dominates the clinical picture.

Central and peripheral nervous systems, some diseases or other conditions caused by adversely affected disorders, resulting in hypotonia.

What are the causes of hypotonia?

Hypotonia does not occur for a single cause. It may be caused by genetic disorders, muscle diseases in infants (muscle, nerve and spinal cord diseases), thyroid disorders, B12 and vitamin D deficiency. Hypotonia, which is mainly examined in two groups, is as follows;

  • Causes of central (cerebral) hypotonia
Central hypotonia occurs as a result of disorders and diseases in the cerebral nervous system.
  • Chromosomal disorders and genetic syndromes
  • Prader-Willi Syndrome (almond eye, small hand and foot, a feeling of hunger in the advanced stage
  • Zellweger syndrome (flattened nose, small chin, full cheeks, pear-shaped head shape and high forehead)
  • Lipid depot diseases (rough face appearance, edema, image in the form of Japanese flag views at the bottom of the eyes)

Hypotonia can be seen as a symptom of these diseases.

  • Causes of peripheral hypotonia

Peripheral hypotonia occurs as a result of disorders and diseases of the peripheral nervous system.

  • SMA (Spinal muscular atrophy)
  • Spinal cord injuries

There may also be cases where central and peripheral hypotonia occur simultaneously.

The diseases that cause this are as follows;

  • Mitochondrial diseases
  • Glycogen storage disease
  • Lipid storage diseases
  • Andermann syndrome
  • Congenital glycolization defects

Nutrition in neurological and metabolic disorders You can watch our live broadcast.

Tests for the Diagnosis of Loose Baby Syndrome

In order to start the treatment of hypotonia, it is important to identify the disease that is the cause of this syndrome. Tests to diagnose;

  • EMG (Electromyogram)
  • Measurement of enzyme levels in blood
  • Muscle ultrasonography
  • Muscle biopsy
  • Molecular genetic analysis
  • Neuroradiology (Brain and spinal cord MRI)
  • Muscle enzymes
  • Control of urine and blood amino acids.

What is SMA?

SMA (spinal muscular atrophy) is a kind of nervous system disease that causes hypotonia formation, also known as loose infant syndrome.

It is one of the causes of peripheral hypotonia. SMA disease, The result is the transfer of the defective SMN gene from chromosome 5 to the child.

This gene is a gene responsible for protein production, and when it fails, the nerve cells in this region begin to die because they cannot provide the protein needed to feed the cells.

This results in muscle weakness and muscle weakness.

Arm and leg muscles and respiratory muscles start to be affected negatively. If only one of the parents has this defective gene, the child is only a carrier and the disease does not occur.

SMA affects a site called anterior horn, which is the site of movement nerves in the spinal cord. Research shows that one out of every 40 people can be a carrier of SMA.

Types and Symptoms of SMA Disease

SMA can be seen in 4 different types;

  1. Type 1 SMA: It is the most severe stage of the disease. Infant mortality is the second most common disease. Head control and unsupported sitting are very poor. Scoliosis is a condition called curvature of the spine. Hypotonic symptoms are visible and have no treatment.
  2. Type2 SMA: Infants can be diagnosed by beginning to show symptoms between the 6th and 18th months. There is head control and unsupported sitting, but they cannot walk independently and cannot move from the recumbent position to the sitting position without assistance. Scoliosis disease can also be seen in type 2.
  3. Type3 SMA: Infants with type 3 SMA are usually normal at birth and symptoms appear after 18 months. They can stand and walk, but may have difficulty walking.
  4. Type4 SMA: SMA is the lightest stage of the disease. It occurs mostly in adulthood. Muscles are weak, but the person is able to walk alone.

Symptoms of SMA include tremor in the hands, loss of muscle mass, increased acidity in the blood, and weight loss.

How to Treat a Hypotonic Baby?

Once the cause of the loose baby syndrome has been determined, it is time for treatment. Symptoms are started by treating the disease that causes the hypotonic baby.

It is necessary to get physiotherapy assistance and to supplement the vitamins that are deficient in the body due to illness. But hypotonia As one of the diseases causing SMA disease, there is no treatment.

The treatment can reduce the symptoms of the patient improve the quality of life and does not cure the disease. There are two types of studies in SMA without treatment.

The first study, genetic therapy, aims to eliminate the causes of the disease. Secondly, cellular replacement therapy aims to replace dead or dying cells with new ones. These two treatment modalities are currently under study.


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