Scoliosis is a medical condition in which a person's spine has a sideways curve. The curve is usually 'S'- or 'C'-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but severe cases can interfere with breathing. Typically, no pain is present.The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected ...

scoliosis

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Author: Sylvia Marinova, PhD student in the Genomic Stability Laboratory at BAS

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Deformities of the musculoskeletal system are among the most common reasons for visiting the doctor's office in childhood. Spinal deformities and incorrect posture are a particularly serious problem [<a href="https://www.bioseek.eu/en/eng/research/pubmed/Screening_and_Early_Identification_of_Spinal_Deformities_and_Posture_in_311_Children_Results_from_16_Districts_in_Slovakia_31007956" target="_blank" rel="noopener">ref.1</a>]. The reasons for their increasingly alarming increase are rooted mainly in the lifestyle of modern children and their families. Lack of movement together with a long stay in a sitting position lead to serious deformations.

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Excessive sitting is bad for your health - learn why

The-normal-curves-of-the-spine

The normal curves of the spine

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The spine is made up of many vertebrae held together by ligaments and muscles. Between the vertebrae are soft "cushions", called intervertebrae discs, the role of which is to absorb vibrations <a href="../../eng/p/za_bolkitie_v_krsta_roliata_na_muskulitie_i_liechieniieto_657b6259_7df2_433b_a68e_10a47e8160ab" target="_blank" rel="noopener"></a> when moving and interfere with friction between the vertebrae.

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In thisway, it acts as an elastic spring and thus increases its resistance and supports the three main movements - bending back and forth, tilting both sides and twisting around its longitudinal axis. Physiological curves are two lordoses (protruding forward) and 2 kyphoses (protruding backwards), forming a double S-shaped curve and corresponding to the corresponding segments of the spine:

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<ul>
<li style="font-weight: 400;">sheath curve - also known as cervical lordosis.</li>
<li style="font-weight: 400;">it is in a dorsal direction, i.e. backwards</li>
<li style="font-weight: 400;">clarified curve - more lumbar lordosis</li>
<li style="font-weight: 400;">cross curve - the last curve of the spine, also called sacral kyphosis</li>
</ul>

Prevention-of-spinal-distortions-in-children-is-important

Prevention of spinal distortions in children is important

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This will help us understand why children are particularly susceptible to spinal distortions.

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During intrautere development and for a short period after birth, the baby has only one primary kyfotic curve that will give rise to the thoracic and cruciate curves. The other two curves - lordotic (in the forward direction), begin to form when the baby begins to raise his head and walk. Therefore, they are very unsustainable in children and make their spine particularly susceptible to non-physiological changes in childhood.

Types-of-spinal-distortions

Types of spinal distortions

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The S-shaped curves described above are natural when they meet certain norms. If they are larger or smaller than them, then we are talking about abnormal curvature or distortion. In addition to lordosis and kyphosis, which describe distortions in the front-reardirection, distortion can also be obtained sideways - we call it scoliosis. Some examplesof distortions are:

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<ul>
<li style="font-weight: 400;">Thoracic kyphosis - when the curve in the thoracic region becomes too large. It is also known as "round back";</li>
<li style="font-weight: 400;">Thoracic hypokiphosis - with it, the curve in the thoracic region is not large enough, and then we talk about a "flat back";</li>
<li style="font-weight: 400;">Thoracic lordosis - here we are talking about "concave back". It is characteristic that the chest curve is inverted and directed in the front direction to the chest.</li>
</ul>

Cuases-for-spinal-distortions

Cuases for spinal distortions

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Most spinal deformities begin as so-called non-structural <a href="https://www.bioseek.eu/en/eng/research/pubmed/The_transformation_of_spinal_curvature_into_spinal_deformity_pathological_processes_and_implications_for_treatment_16759413" target="_blank" rel="noopener"></a> or functional distortions [ref.3] . These distortions are usually due to incorrect posture and misdiagnosed muscle strength . By definition, such curves return to normal when the individual is standing in a proper posture or lying down. Even when the wrong posture has become a habit or there is regular asymmetricand excessive load (such as from the school backpack), usually this type of distortion is reversible by building correct habits and appropriate exercises that can be prescribed by a physiotherapist.

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Functional distortions can go structural when they remain untreated and are not being worked on. Then we are talking about acquired structural changes. Unlike non-structural changes, they have a loss of flexibility in a certain segment of the spine. They may also develop due to congenital deformities (congenital).

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Congenital deformities can be an irregular form of the vertebrae, adhesions between them or separation, etc. It is characteristic of them that they lead to distortions that worsen with the growth of the child. However, in some cases, if timely measures are taken, the long-term effect may be reduced.

Other-spinal-problems-in-children

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<ul>
<li style="font-weight: 400;">Spondylolysis - these two conditions are the most <a href="https://www.bioseek.eu/en/eng/research/pubmed/Back_pain_and_scoliosis_in_children_When_to_image_what_to_consider_28786774" target="_blank" rel="noopener"></a> common cause of pain [ref.4] in the lower back in children over 10 years of age. Probellolysis is a degeneration of the intervertebrae discs and is usually due to increased stress on them due to load and the generation of multiple micro-injuries that over time lead to wear and tear.</li>
<li style="font-weight: 400;">Spondylolysis - it develops as a result of spondylolysis in prolonged biomechanical stress and lack ofmeasures. Due to a decrease in resistance of the spine, it is possible that some vertebrae slip against each other and lead to serious complications.</li>
</ul>

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Of course, there are other spinal abnormalities that occur in children, but they are not subject to this article.

When-to-seek-medical-attention

When to seek medical attention

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Consultation with a pediatric specialist in the field is needed when our child:

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<ul>
<li style="font-weight: 400;">begin to acquire lateral curves of the spine</li>
<li style="font-weight: 400;">begin to acquire unusual rounding in the shoulder area</li>
<li style="font-weight: 400;">begin to acquire asymmetry in the shoulders or pelvis</li>
<li style="font-weight: 400;">experiences unusual back pain</li>
</ul>

How-to-treat-spinal-distortions

How to treat spinal distortions

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Swimming is a sport that prophylactics spinal distortion, helping the proper development of the chest and spine. This is not a guarantee that there will be no distorting, of course. It turns out that in more flexible children, spinal distortions are more common. For this, in addition to periodic preventive examinations, in case of suspicion of this type of problem, an orthopedist and a physiotherapist should be consulted accordingly.

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The prognosis depends very much on how serious the spinal malformations are and on what is the root cause of them. However, most children regain the correct curves of the spine. Therefore, prevention, properdiagnosis and appropriate treatment are needed.

What are spinal distortions in children and adults and what to do

https://d20hztklr4qnvi.cloudfront.net/d45764cd-78b0-4776-bdda-b8e05a53a20a_middle.jpg

 What are spinal distortions in children and adults and what to do

Силвия Маринова

&nbsp;Author: Sylvia Marinova, PhD student in the Genomic Stability Laboratory at BAS

Photo by Ryan Johnson, <a href="https://www.flickr.com/photos/northcharleston/22988177343" target="_blank" rel="noopener">Flickr</a>

The term spinal muscular atrophy (SMA) refers to a group of genetic diseases that affect motor neurons and lead to progressive muscle degeneration and weakness. <a href="https://www.ncbi.nlm.nih.gov/pubmed/29478602" target="_blank" rel="noopener">The</a> first cases [ref. 1] were described as far back as 1891 by two scientists independently of each other.

What-is-spinal-muscular-atrophy

What is spinal muscular atrophy

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Spinal muscular atrophy is a rare neuromuscular <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">genetic</a> disease (1 in 10,000 newborns) affecting the central and peripheral nervous system, as well as skeletal muscle.&nbsp; Nerve cells that control the will movements of muscles are called motor neurons and are located in the spinal cord, hence the name "spinal muscle". "Atrophy" is a medical term meaning diminutive, and that's exactly what happens to muscles when they are not stimulated by the nervous system.

What-is-the-cause-of-spinal-muscular-atrophy

What is the cause of spinal muscular atrophy

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The cause of the disease is genetic deformation, which is inherited by autosomal recessive route. This means that in order for the disease to develop, a person must have received a mutational (defective) <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">gene from both the mother and the father</a>. The most common form of spinal muscular atrophy is transmitted in this way is the cause of about <a href="https://www.bioseek.eu/us/eng/research/pubmed/Spinal_muscular_atrophy_a_timely_review_21482919" target="_blank" rel="noopener">95%</a> <a href="https://ghr.nlm.nih.gov/gene/SMN1" target="_blank" rel="noopener"></a> [ref. 2] of all cases. <a href="/p/kakva_ie_razlikata_miezhdu_bieltk_i_protiein_b1b6b96e_e340_46d2_9768_ac9fa8cd6adc" target="_blank" rel="noreferrer"></a> <a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer"></a>

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As mentioned above, they are responsible for the transfer of information from the cerebral cortex to the skeletal muscles, allowing the body to move. When this function is impaired, spinal muscular atrophy develops.

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Since there is a large difference in the rate of progression of the disease, as well as in the age at which it manifests itself, it is divided into four main groups. This difference is also due to the fact that there is another gene (SMN2), which is an almost identical copy of SMN1. As a result, it can also produce SMN protein, but it is not always functional, and because of this it can only partially compensate for the defect in SMN1.

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Since SMN2 is presented with a different number of copies in different patients,then if they are more, they will compensate for the loss of SMN1 better. This is why the severity of the disease is lower in patients with more copies of the SMN2 gene and different types of SMN2 are distinguished.

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There are other types of spinal muscular dystrophy that are due to mutations in genes other than SMN1found on other chromosomes, but they will not be subject to the article, as they are even less common.

Clinical-picture-of-spinal-muscular-atrophy

Clinical picture of  spinal muscular atrophy

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The main symptoms characteristic of the disease are muscle weakness and progressive atrophy. Since the disease was detected, numerous cases have been described so far, and different phenotypes (manifestations) have initially been classified into 3 different groups (from 1 to 3) according to the age of unlocking and the severity of symptoms.

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These groups reflect the condition as severe, medium and mild, respectively, based on the ability of patients to get to a sitting position or get up and walk independently. Since this distinction does <a href="https://www.bioseek.eu/us/eng/research/pubmed/Chaos_in_the_classification_of_SMA_a_possible_resolution_7719138" target="_blank" rel="noopener">not describe</a> [ref. 4] exhaustively enough for all diversity, a group 0 was later added for patients in whom the disease began to develop already in the mother'swomb - and group 4 - for patients where the first symptoms appeared in adulthood.

The-SMA-groups-and-their-main-characteristics

The SMA groups and their main characteristics

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This type describes newborns with extremely pronounced muscle weakness and a history of limited mobility in the mother's womb. [ref. 5] difficulty breathing at birth, difficulty swallowing, joint deformities and other serious complications were observed. Survival is very short due to reaching respiratory failure and rarely exceeds 1 year. <a href="https://www.bioseek.eu/us/eng/research/pubmed/Very_severe_spinal_muscular_atrophy_SMA_type_0_an_expanding_clinical_phenotype_10700538" target="_blank" rel="noopener"></a>

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The disease occurs usually up to 6 months of age. There is increased muscle weakness and lack of muscle tone. These children can not independently reach a sitting position, often can not control the movements of their head, experience difficulty breathing and swallowing. As a result, muscle fasciculation of the tongue is observed, which is short cuts and relaxations of the muscles of the tongue, which can be visible under the skin. Usually, patients lose the ability to breathe on their own until they reach their second year. Despite the severity of symptoms, these children, as in other groups, do not have delayed mental development.

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Children in this group can sit, but not walk independently. Muscle weakness and tone are progressively expressed more strongly in the legs than in the hands. Weakness leads to improper development of bone structure, as well as joints. Often, a pronounced scoliosis is observed, and it is possible to develop breathing difficulties over time.

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In this group, the disease develops from early childhood to adolescence. The clinical picture is lighter and patients can get up and walk without support. Since the disease is degenerative, a need for a wheelchair often appears later in life. Type 3 is also known as Kugelberg-Velander's disease.

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Type 4 is the mildest form of the disease, but represents only less than 5% of the total number of patients. The clinical picture is similar to type 3, but the first symptoms usually appear in adulthood after the thirtieth year.

Diagnosis-and-treatment-of-spinal-muscular-atrophy

Diagnosis and treatment of  spinal muscular atrophy

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_0

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_1

Doubts about this disease appear with the first symptoms. With the advancement of medicine, genetic tests already exist today that look for abnormal changes in the SMN1 gene.

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Patient care is relative to the symptoms and include rehabilitation, medical care for feeding and breathing in more severe cases.

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As for the <a href="https://www.mda.org/quest/article/sma-research" target="_blank" rel="noopener"></a> drug treatment, so far there are only two approved products from the US FDA. One <a href="https://www.bioseek.eu/us/eng/research/search?q=gene%20therapy%20SMA&amp;p=1&amp;st=1&amp;tp=9&amp;as=ARTICLE%3APUBMED%3A11213830" target="_blank" rel="noopener"></a> is the drug spinraz [ref. 6],which is aimed at increasing theamount of functional SMN protein. <a href="https://www.puls.bg/aktsenti-c-16/odobrikha-nai-skpata-genna-terapiia-za-lechenie-na-spinalna-muskulna-atrofiia-n-34623" target="_blank" rel="noopener">zorgensma</a> [ref. 8]which aims at replacing the defective SMN1 gene.

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_4

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_5

<a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine resemblance to our parents</a>

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_6

<a href="/p/kak_nuklieinovitie_kisielini_dnk_i_rnk_dirizhirat_zhivota_7b8f007a_0254_40cb_8d72_36410852722e" target="_blank" rel="noreferrer">How nucleic acids DNA and RNA orchestrate life</a>

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_7

<a href="/p/ima_li_smisl_da_si_napravish_ghienietichien_tiest_0a6b928b_e726_4246_be6a_2ef32f93ccf0" target="_blank" rel="noreferrer">Does it make sense to take a genetic test?</a>

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_8

<a href="/p/iepighienietikata_ili_kak_nachint_na_zhivot_upravliava_ghienitie_ni_8ec805d0_069f_4823_89cd_c55d051a9610" target="_blank" rel="noreferrer">Epigenetics or how lifestyle governs our genes</a>

Diagnosis-and-treatment-of-spinal-muscular-atrophy_3_9

<a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer">Mutations vs. Natural Selection</a>

scoliosis

Spinal muscular atrophy (SMA) - causes, symptoms and treatment