What is SMA Disease? Types of SMA, Symptoms and Treatment

Spinal muscular atrophy (SMA), one of the motor neuron diseases, is a disease seen in people with congenital genetic defects.

Spinal Muscular Atrophy (SMA)

 The incidence of the disease, which affects the motor nerves that enable the body to move, is 1 in 10 thousand worldwide, while this figure is approximately 1 in 6 thousand in our country.

SMA disease is a congenital genetic disorder. SMA, which causes the involvement of many muscles in the body, negatively affects the mobility of the person. It causes loss of strength and wasting in voluntary muscles. In the disease that does not affect the senses of sight and hearing, the intelligence level of the person is normal or above normal.

SMA disease is evaluated in 4 different classes. The evaluation is made depending on the age of onset of the disease and the mobility of the person. Frequently asked "What is SMA type 1 disease?" or "What is SMA disease type 2?" before answering the questions "What is SMA disease?"

SMA disease (Spinal muscular atrophy) is a neurological disease that causes the loss of spinal motor neurons, which can also be defined as motor nerve cells in the spinal cord. The disease, which causes the involvement of proximal or in other words close to the center muscles, leads to bilateral weakness.

SMA disease, which has a progressive nature, causes loss of strength and muscle loss (atrophy) in the muscles. The incidence of SMA in the children of parents who are not aware that they are carriers is 25%. In other words, SMA is inherited and the SMN gene cannot produce protein in these patients. As a result, the motor nerve cells in the body cannot be fed in a healthy way and the voluntary muscles become unable to fulfill their duties over time. The often wondered question "Is SMA disease genetic?" This question can be answered in this way.

There are 4 different types of SMA disease, also known as loose baby syndrome among the people. SMA, which is seen in 1 in every 6000 births in our country, does not affect the person's vision and hearing. However, in some cases, it can even make feeding and breathing impossible.

What are the Symptoms of SMA Disease?

SMA disease has a wide spectrum in terms of symptoms and the symptoms are present in every individual. can occur in different ways. Symptoms of SMA disease can also occur in many different neurological diseases. Therefore, only the patient's medical history and symptoms are not sufficient to make a diagnosis. However, the most common symptom of SMA disease is muscle weakness and muscle wasting.
SMA symptoms also differ according to the types of the disease. In the presence of SMA Type-1, which is the first class of SMA disease, which has 4 different types, weakness is widespread throughout the body. In Type-2 and Type-3 SMA types, the weakness is in the muscles close to the body center. In this type of SMA group, symptoms are mostly seen in the form of tongue twitching and hand tremor. Therefore, for differential diagnosis, the neurologist may request many different radiological examinations and laboratory tests. Although the symptoms of SMA disease differ according to the type of disease, the symptoms of SMA in general can be listed as follows:

• Weakness in the muscles,
• Lack of motor development,
• Reduction in reflexes,
• Difficulty feeding,
• Hand tremor,
• Failure to maintain head control,
• Twitching of the tongue,
• Low voice,
• Cramp,
• Difficulty in maintaining balance,
• Difficulty in sitting and standing,
• Regression / loss of walking ability.

What are the Types of SMA Disease?

There are 4 different types of SMA, which is a neurological disease. These types are determined by the age of onset of the disease and the movements that the person can make. Although it is a progressive disease, the earlier the first symptoms of the disease appear, the milder the course of the disease. The types of SMA disease are as follows:

Type-1 SMA: It is the most severe type. It occurs in infants 6 months and younger. Symptoms such as lack of movement and head control are common in these infants. In addition, frequent respiratory tract infections can be counted among the characteristic features of the disease.

Type-1 SMA: It is the most severe course. It occurs in infants 6 months and younger. Symptoms such as lack of movement and head control are common in these infants. In addition, frequent respiratory tract infections are characteristic of the disease. among its eristic properties.
The slowing down of the baby's movements in the womb can also be seen in Type-1 SMA patients. The definition of hypotonic baby, also known as a loose baby among the people, is made for SMA, Type-1 patients. In addition, these babies cannot move their arms and legs. However, the baby's gaze is lively and can make eye contact. After a while, the baby may have to receive respiratory support.
SMA Type-1 is among the main causes of infant mortality.

• Type-2 SMA: It is the type of SMA seen in infants aged 6 to 18 months. Although the development of the baby is normal during the first 6 months, the symptoms of the disease begin to appear in the baby after this period.

Since these patients show normal development during the first 6 months, they can control their heads and sit alone.
However, the baby does not straighten from sitting position, cannot stand or walk without support.
In the presence of SMA Type-2, which causes symptoms such as weakness, tremor in the hands, and lack of weight gain, the baby may have spinal curvature (scoliosis), respiratory tract infection and/or weak cough.

• Type-3 SMA: 18 It is the type of SMA that starts after . Although the baby's development is normal until this period, SMA symptoms may occur from the 18th month to adolescence.

Although breathing is affected in patients with type-3 SMA, this is not as intense as in the first 2 types of the disease.
With the progression of the disease, weakness occurs in the muscles of the person.
Over time, the person begins to have difficulty in getting up from his seat, cannot run, cannot climb stairs.
In the following period, the person may completely lose his walking ability.
Type-3 SMA patients may develop scoliosis.

• Type-4 SMA: SMA Type-4, which is characterized by the appearance of SMA symptoms in adulthood, is rarer than other types of the disease.

The disease progresses slowly and in rare cases, regression in walking, swallowing and breathing skills occurs.
Weakness may develop in the arm and leg muscles. The development of scoliosis can be observed in
Type-4 SMA patients.

How is SMA Disease Diagnosed?

Person with SMA symptoms If the patient applies to a neurologist, the physician first takes the patient's medical history and then performs an examination.

• The nerve and muscle measurement of the person is performed by EMG.
• When necessary, the physician may request additional laboratory tests and radiological imaging.
• In case of detection of abnormal findings, suspicious gene structures are examined with additional blood tests.
• In the light of the findings obtained, the person is diagnosed with SMA disease.

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