Muscle atrophy is the loss of skeletal muscle mass that can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability.

Disuse causes rapid muscle atrophy and often occurs during injury or illness that requires immobilization of a limb or bed rest. Depending on the duration of disuse and the health of the individual, this may be fully reversed with ...

muscular atrophy

Having-a-pet-is-fun-(and-healthy)

Having a pet is fun (and healthy) 

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Do you have a dog? Do you love him? Well, if you have a cat things look a little different, but there's a chance they love you too - and that's great for everyone! The unconditional love that members of the canine genus give us is like no other and also brings us great health benefits in the long run. Some of these benefits are reduced stress levels and risk of high blood pressure, reducing the risk of cardiovascular disease, loneliness and social exclusion.&nbsp;

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Did you know that dog therapy is used to help patients who are dealing with dementia or Alzheimer's? The presence of dogs has been found to help reduce the effects of dementia, for example &ndash; loneliness, irritability, depression and anxiety. Some studies have even found that dogs are able to "smell" Alzheimer's disease in urine samples. &nbsp;<a href="https://www.yalescientific.org/2016/04/sniffing-out-alzheimers-olfaction-as-a-diagnostic-and-research-tool/" target="_blank" data-ref="Sniffing Out Alzheimer&rsquo;s: Olfaction as a Diagnostic and Research Tool &ndash; Yale Scientific Magazine" rel="noopener">[ref. 1]</a>&nbsp;

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Contact with a cat can also contribute to improving the treatment of many diseases, including depression (anxiety and fear), arthritis, Alzheimer's disease, AIDS, ADHD, diabetes, multiple sclerosis, cardiovascular disease, progressive muscle atrophy, sclerosis, vision loss and hearing, mental illness, osteoporosis and autism. &nbsp;<a href="https://www.sciencedirect.com/science/article/abs/pii/S1230801316300613" target="_blank" data-ref="Feline-assisted therapy: Integrating contact with cats into treatment plans" rel="noopener">[Ref. 2]</a>&nbsp;

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A new study has found that pet ownership is particularly useful in another extremely important aspect - working verbal memory.

Pets'-contribution-to-cognitive-health

Pets' contribution to cognitive health

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"To the best of our knowledge, our study is the first to look at the effect of the duration of pet ownership on cognitive health," said lead author Jennifer Applebaum, a doctoral student in sociology and a doctoral student at the National Institute of Health at the University of Florida.&nbsp;<a href="https://news.ufl.edu/2022/02/pet-ownership-study/" target="_blank" data-ref="Long-term pet ownership may help older adults retain cognitive skills" rel="noopener">[Ref. 2]</a>&nbsp;

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The study analyzed cognitive data on more than 1,300 adults who participated in the so-called "Health and Retirement Study," a nationally representative study tracking the lives of Americans 50 and older. It is also interesting that it is not only cats and dogs that can stimulate brain health. The people involved in the study also looked after rabbits, hamsters, birds, fish and reptiles, although dogs were most prevalent as a group, followed by cats.

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One of the main findings of the study was that owning pets for five years or more resulted in the greatest benefit, slowing cognitive decline by 1.2 points over the six-year study period compared to the rate of decline in non-pet people, said clinical neuroimmunologist Dr. Tiffany Brayley, Associate Professor of Neurology at the University of Michigan. These findings provide early evidence to suggest that long-term pet ownership may protect against cognitive decline, Dr. Brayley adds.

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The scientific work will be presented in April 2022 at <a href="https://ihs-headache.org/en/events/74th-annual-meeting-of-the-american-academy-of-neurology/" target="_blank" rel="noopener">the 74th annual meeting of the American Academy of Neurology</a>.

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Any participant with cognitive decline at the beginning of the study was excluded from the analysis. In the final sample, over 53% own pets. Pet owners tend to have higher socioeconomic status, which can also be the cause of the benefits. Experts believe that people on higher incomes are more likely to visit doctors and take care of their health, and this may also apply to their pets.

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Another conclusion of the study that stands out: any brain stimulation associated with owning pets for five years is more noticeable in older people of color, especialli Black, adults with higher education and men. However, more studies are needed to include more men, as previous studies have mainly been done among women.

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Why have pets for more than five years has the most positive impact? The study, which can only show a link, not a direct cause and effect between pet ownership and cognition, fails to answer this question.

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However, previous studies have also identified associations between interactions with companion animals and physiological measures to reduce stress, including reducing cortisol levels and blood pressure, which in the long term can have an impact on cognitive health. There can also be a complex of other brain benefits resulting from owning pets, such as social communication and a sense of duty and some purpose.

The researchers found that older people over 50 or older who had any type of pet for more than five years showed a slower cognitive decline in verbal memory compared to people who did not have pets. The presence of a pet or multiple pets combines many basic components of a healthy lifestyle for the brain. These include increased activity - games and walks, cognitive engagement, socialization, which only part of the activity influencing key modifiable risk factors for cognitive decline and dementia in Alzheimer's disease.

Pets can improve cognitive function, according to a new study

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Pets can improve cognitive function, according to a new study 

Бетина Цветкова

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Leber's-congenital-amaurosis

Leber's congenital amaurosis

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U.S. scientists at the University of Pennsylvania were able to achieve a lasting improvement in vision with a single injection of RNA therapy, targeting Leber's congenital amaurosis disease.&nbsp; They reported their results in the journal Nature Medecine&nbsp;<a href="https://www.nature.com/articles/s41591-021-01297-7?error=cookies_not_supported&amp;code=7d18976f-5013-4c77-929e-03dffbb964db" target="_blank" data-ref="Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report - Nature Medicine" rel="noopener">[ref. 1]</a> .&nbsp;

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Leber's congenital amaurosis disease primarily affects the retina - the part of the eye that captures light and colors, and converts them into a nerve signal that is sent to the brain. People suffering from this disease usually have severely impaired vision from infancy, or even blindness. It is rarely progressive, but sometimes a worsening of symptoms is observed over time. Some of them include:

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<ul><li style="font-weight: 400;" aria-level="1">curtain of the eyes (cataracts)</li><li style="font-weight: 400;" aria-level="1">uncontrolled movement of the eye</li><li style="font-weight: 400;" aria-level="1">intolerance to bright light</li><li style="font-weight: 400;" aria-level="1">squint</li><li style="font-weight: 400;" aria-level="1">extreme farsightedness&nbsp;, etc.</li></ul>

What-causes-the-disease

What causes the disease 

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Leber congenital amaurosis is a genetic disease.&nbsp;Mutations in a gene called CEP290 are among the most common causes of developing the disease - between 15 and 22% &nbsp;of cases are due to defects in it <a href="https://medlineplus.gov/genetics/gene/cep290/#:~:text=At%20least%2035%20mutations%20in,associated%20with%20Leber%20congenital%20amaurosis." target="_blank" data-ref="CEP290 gene: MedlinePlus Genetics" rel="noopener">[ref. 2]</a> .

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One of the most common mutations, 2991+1655A&gt;G, was also the subject of the therapy in the clinical trial conducted at the Scheie Eye Institute in Pennsylvania.

Nature-of-antisense-RNA-therapy

Nature of antisense RNA therapy

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Antisense-RNA oligonucleotides are molecules of RNA that target the messanger RNA (mRNA) of a gene, i.e. the intermediary molecule between the genetic information encoded in the gene and the final functional unit of the cell which is the protein. Binding of the antisense-RNA to the targeted mRNA can lead to a number of consequences, such as its change.&nbsp;

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This is also the purpose of therapy against Leber congenital amaurosis. The main idea of the researche is to inject a specially created antisense-RNA molecule to recognize the early defective mRNA, which would encode the defective CEP290 gene, and change it to eliminate the aforementioned 2991+1655A&gt;G mutation.&nbsp;

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The team recruited 11 patients for the clinical trial suffering from the disease with a detected 2991+1655A&gt;G mutation. The original protocol included an antisense-RNA injection called sepofarsen every 3 months. However, the last patient, patient 11, refused to continue treatment&nbsp; after the first dose, as he felt a significant improvement in symptoms and wanted to reduce the risk of side effects after the administration of subsequent doses of the preparation.

A-single-injection

A single injection 

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The case of patient 11 is the subject of the article published in Nature Medecine. It is of interest because the patient received only one dose of the therapy, but the results of the follow-up showed that his vision improvement was comparable to that of the other treatment participants who received all the necessary doses.&nbsp;

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The patient was followed within 15 months after the first and only dose of sesopharsen was administered. The researchers reported significant improvements in the participant's vision and in the structure of his retina, with the peak of efficacy being the third month after therapy. There was a slight decrease in effectiveness by month 15, but nevertheless the symptoms were still significantly improved.

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A possible explanation, according to the team of researchers, is the slow degradation of the antisenes-RNA entering the nucleus of the cell, as well as the relatively long life of the properly synthesized functional CEP290 protein.

The study is important from medical point of view as it provides valuable guidance in antisense-RNA therapies. This type of treatment is very promising for other diseases as well. Currently, there are exist approved similar therapies for certain neurological conditions as Duchenne muscular dystrophy and Spinal muscular atrophy. Moreover, treatment for Parkinson's, Alzheimer's and Huntington's diseases is under development.

Long-term treatment of a genetic form of blindness 

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Long-term treatment of a genetic form of blindness?

Силвия Маринова

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

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Whether our baby will have green or brown eyes depends on what is written in its genetic code. But in addition to such characteristics, genetics also determines the development of diseases and defects that can be very severe and even fatal. On average, between 3% and 5% of all pregnancies [<a href="https://pubmed.ncbi.nlm.nih.gov/27235906/" target="_blank" rel="noopener">ref.1</a>] are known to be complicated by a genetic or birth defect.

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In order to prevent them, there are a number of genetic tests both before and during pregnancy and it is important that all expectant parents are aware of them and discuss them with the advising obstetrician-gynecologist when planning a pregnancy. In this article we will introduce you to the 3 main groups of genetic tests that are applied.

What-are-genetic-diseases

What are genetic diseases

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What-are-genetic-diseases_0_1

Genetic diseases <a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer"></a>are due to anomalies in a person's genome. They may be different species and may be the result of a change called a mutationin a particular gene.

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Anomalies can also be in larger structures called chromosomes . They carry the genes. Each person normally has 23 pairs of chromosomes insomatic cells, a total of 46 pieces (more <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer"></a> detailed about genes and chromosomes can be read here [ref.2]). Sometimes it is possibleto get this way, for example, with Down syndrome, we know that there is a trisomy of the 21th chromosome.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy

Find out if you are a carrier of genetic diseases before pregnancy

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Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_1

As a first step towards creating a new life, we could do a study to see if we or our partner are carriers of a genetic defect that may be risky for our future baby.

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The choice of whether to take such a test is entirely free. Often our obstetrician-gynecologist can recommend such studies or refer us to a specialist in medical genetics if he <a href="https://www.puls.bg/bremennost-i-razhdane-c-36/prof-liudmila-angelova-skriningova-programa-za-otsenka-na-risk-se-predlaga-na-vsichki-bremenni-v-stranite-s-naprednalo-zdraveopazvane-n-35599" target="_blank" rel="noopener">deems</a> itnecessary.

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The study in itself is taking material from the oral cavity .

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<ul>
<li>Cystic fibrosis - with a defect in the CFTR gene. The disease affects the respiratory and digestive systems most seriously</li>
<li>Spinal muscular atrophy - with a defect in the SMN gene. More about the disease can be read <a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">here</a> [ref.4]</li>
<li>Thalassaemia - Defect <a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer"> in HBA or HBB </a> [ref.5] genes.</li>
<li>Brittle X chromosome syndrome - a defect in the FMR1 gene. The disease leads to increased mental retardation and specific facial deformities and much more.</li>
</ul>

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As these are hereditary diseases, there is a high incidence of disease in the family history. In the presence of any of the following factors, it is good to do a genetic screening for carrier. Here is the time to mention that this test can also be done during pregnancy, along with other studies.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_6

In addition to genetic testing, there are other ones that assess the mother's health, but they are not subject to this article.

Screening-tests-during-pregnancy

Screening tests during pregnancy

Screening-tests-during-pregnancy_2_0

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Most prenatal tests belong to the screening test group. They aim to identify women with pregnancies at risk of chromosomal aberrations or birth defects. These studies do not diagnose, but only identify the higher risk of a genetic defect for our baby.

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<ul>
<li style="font-weight: 400;">Screening in the first trimester - it consists of a combination of a study of serum indicators of the mother and an echographic examination. The two studies complement each other and are not interchangeable. In ultrasound, for example, the amount of fluidthat accumulates in the occipital region of the foetus is observed. If foetal abnormalities are present, it will be increased and this is an early sign by which aneuploydia can be assumed, especially Down syndrome.</li>
<li style="font-weight: 400;">Late screening - we are talking about classic biochemical screening in the second trimester, but it has a reduced sensitivity to that in the first trimester.</li>
<li style="font-weight: 400;">Non-invasive prenatal test - has been studied since <a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener"></a> 2011. </li>
</ul>

Diagnostic-tests-during-pregnancy

Diagnostic tests during pregnancy

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These are procedures that determine with high accuracy whether the fetus has chromosomal malformation. If our screening test is positive, then a diagnostic examination is required. They are two main types:

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<ul>
<li style="font-weight: 400;">Chorionobiopsia - is performed between the 10th and 13th weeks of gestation, <a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener"></a> and this is the main advantage of the method. It is invasive and involves sampling from the placenta, which is subjected to examination.</li>
<li style="font-weight: 400;">Amnioccentesis - the study is carried out between the 16th and 18th weeks of gestation.</li>
</ul>

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Having a child is the greatest happiness that can happen to us. But it is accompanied by many difficulties and requires us to be responsible and plan our actions well. In this sense, it is good to think about the possibility of genetic testing, especially if we have reason to assume that we are carriers of a genetic disease. Prenatal diagnosis is also an important part of pregnancy. The main advantage of taking advantage of it is that it gives us preliminary information about the health of our baby and in case it needs special care it gives us time to prepare well.

Diagnostic-tests-during-pregnancy_3_4

Diagnostic-tests-during-pregnancy_3_5

<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>

Diagnostic-tests-during-pregnancy_3_6

<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>

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

Diagnostic-tests-during-pregnancy_3_8

<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>

Diagnostic-tests-during-pregnancy_3_9

<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>

Diagnostic-tests-during-pregnancy_3_10

<ol>
<li style="font-weight: 400;">
<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>
</li>
<li style="font-weight: 400;">
Prof. Lyudmila Angelova: A risk assessment screening program is offered to all pregnant women in countries with advanced healthcare.
</li>
<li style="font-weight: 400;">
<a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">Spinal muscular atrophy (SMA) - causes, clinic and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer">Types of thalassaemia, symptoms and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener">Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy</a>. Journal of Human Genetics, 2015
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener">Noninvasive prenatal testing: the future is now.</a> Reviews in obstetrics &amp; gynecology, 2012
</li>
</ol>

Diagnostic-tests-during-pregnancy_3_11

&nbsp;

3 Types of Genetic Tests Before and During Pregnancy

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 3 Types of Genetic Tests Before and During Pregnancy

&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

What-is-spinal-muscular-atrophy_-1_0

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

What-is-the-cause-of-spinal-muscular-atrophy_0_0

What-is-the-cause-of-spinal-muscular-atrophy_0_1

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.

What-is-the-cause-of-spinal-muscular-atrophy_0_4

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.

What-is-the-cause-of-spinal-muscular-atrophy_0_5

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.

Clinical-picture-of-spinal-muscular-atrophy_1_1

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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The-SMA-groups-and-their-main-characteristics_2_1

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-SMA-groups-and-their-main-characteristics_2_4

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

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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.

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

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