What is SMA Disease? Get to know the cause and symptoms of their

SMA or spinal muscular atrophy is a group of genetic disorders in which the person cannot control the movement of their muscles due to the loss of nerve cells in the spinal cord and brain stem.. This is a neurological disease and a kind of motor neurons.. Spinal muscular atrophy or SMA is a genetic disease that affects the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscles).. SMA involves the loss of nerve cells called motor neurons in the spinal cord ... which is why it is classified as a motor neuron disease or motor neuron.. It often affects infants and children and makes it difficult for them to use muscles.. In this case, the brain stops sending messages that control muscle movement ... When this happens, the child's muscles begin to weaken and shrink (atrophy) ... Likewise, the child has difficulty controlling head movements, without help and even walking ... In some cases, the patient may have difficulty swallowing and breathing .... This is a rare disease and affects one person around 2.5 to 2.5 people around the world .... Learn more: Brain stimulation methods and their effect on SMA brain health have 4 types and stages of progress, each of which has different reasons.. If your symptoms may show SMA, it is best to see a neurologist at the earliest opportunity or consult your neurologist.. Read more: The anatomy of the human brain and the symptoms of each are usually divided into four types: Type I, also in the neonat of Werdnig-Hoffmann or SMA, which is often revealed before 6 months.. Your doctor may detect this type of SMA before the baby is born, as some tests suggest that low fetal movement in the last months of pregnancy ... These babies are often born with respiratory problems ... The most common symptoms of SMA Type I often include hypotonial (muscle reduction), low -limited movements, lack of tendon reflex, muscle jump (disclosure), swallowing and eating problems and respiratory disorders.. These children may also cause scoliosis (spine curvature) or other skeletal abnormalities .... If left untreated, children with this type of spinal cord can never sit or stand and most of them die before the age of 6 .... Type II SMA Disease Children with SMA Type II often shows its first symptoms between 2 and 6 months, although in some cases these symptoms may appear earlier.. These children can sit without help but cannot stand or walk without help ... If you are not treated, some of these children lose the ability to sit without help over time .... In addition, respiratory problems such as hypertension may have sleep ... The average life expectancy of these people depends on whether they suffer from respiratory problems. In general, most children with the disease live until adulthood or adulthood .... Symptoms of III Type III III (Coglberg Valvandar) often appear after 6 months.. These children can usually walk without help .... they may have trouble walking and running, climbing stairs or getting up on the chair.. In IIII SMA, the muscles of the proximal legs are usually affected and tremors are seen in the hands .... The side effects of this type of SMA include scoliosis and contractor (chronic shortening of muscles or tendons around the joints due to abnormal tenson and abnormal muscle weakness) ... These complications prevent free joints .... People with SMA type III are likely to have respiratory infections more likely to ... but with precautions, most of them have normal life .... Learn more: Parkinson's symptoms in men and women IV SMA disease This type of SMA is rare ... Symptoms usually start after 6 years of age ... One of the most common symptoms of SMA type IV is the adjacent to moderate muscles. This type of spinal muscular atrophy usually does not affect one's life .... People with SMA cannot produce enough SMN protein .... Causes, symptoms, diagnosis and treatment of spinal cord atrophy, or have lost part of the SMN1 gene or have a modified (mutated) gene ... a healthy SMN1 gene (located in chromosome 2) produces SMN protein.. Motor neurons need this protein to continue survival and function ... People with SMA disease do not produce enough SMN protein.. Therefore, their motor neurons shrink and shrink and disappear ... In these conditions, the brain cannot control voluntary movements, especially head, neck, limbs.. There is a SMN2 gene in the body that produces a small amount of SMN protein .... There may be up to eight copies of a SMN2 gene in the body.. Having several copies of the SMN2 gene usually causes the symptoms of spinal cord muscle atrophy ... because these extra genes can compensate for the absence of SMN1 protein. Read more: Inheritance Disease and Genetic Disorders + Prevention and Treatment of other types of SMS that are not related to chromosome 2, although all known forms of SMA are genetic, each is due to defects in different genes and has different hereditary patterns.. For example, some types of SMA are not related to SMN protein deficiency, but due to defects in genes and other chromosomes ... These diseases are different in severity and the muscles are more affected .... Spinal muscular atrophy, along with respiratory distress, also known as type 1 (DSMA1), is a rare type of SMA caused by defects in the IGHMBP2 gene.. Infants with Asmard have severe respiratory distress and muscle weakness. In addition, they are exposed to intrauterine and premature birth .... Read more from the best neurologist in person: What do you know about Carp's tunnel syndrome ?. Kennedy is often an adult disease whose symptoms are mainly at the age of 2 to 5 years ... The disease is associated with symptoms such as muscle weakness and cramping in the hands, feet and facial area, breast enlargement, and difficulty swallowing and swallowing.. In addition, like many X chromosome -related diseases, it grows much more in men than women .... The reason is that men only have a copy of the X chromosome that has a mutation that causes disease (XY men's sex chromosomes and female sex chromosomes) .... But in women, having a second version without jumping may cause different or milder symptoms ... In some cases, women do not experience symptoms .... When should we see a doctor if you or your child have SMI, you should be aware of the problems and emergencies that should be referred to the doctor immediately.. Contact your doctor if you have the following symptoms: Fever: Fever may show respiratory infections or infectious pressure ulcers that need treatment .... A wound that does not heal: If you have painful wounds that do not heal, it can be worse and infectious if left untreated. Puffy hands or feet: These symptoms may indicate deep vein thrombosis (DVT), which can also extend to other parts of the body (such as lungs) and cause severe problems.. Problem in eating or swallowing: These problems can cause weight loss and malnutrition. In this case, a nutritionist or a speech therapist and swallowing specialist may examine the patient .... Crash or pain in the abdominal muscles: This may be due to constipation ... Repeated cough: Continuous cough may indicate that you are at risk of aspiration .... Aspiration is a fatal condition in which food or saliva stuck in the lungs .... In addition, if you see other symptoms such as nausea, vomiting and symptoms of dehydration (such as dark urine or excessive fatigue), see your doctor.. Learn more: Huntington's disease is no definitive cure for SMA ... the pain that has come to everyone! ... SMA treatments Some treatments can reduce the severity of symptoms and improve the quality of life of people with the disease ... The US Food and Drug Administration's Treatment of SMA (FDA) has confirmed two SMA drugs. Researchers are also researching more drugs.. Spinraza (Spinraza) was approved in year 2 by the US Food and Drug Administration (FDA).. The method in which the drug is injected directly into the spine fluid ... This injection should be done by a trained specialist ... The doctor will inject the first four doses of this drug within 6 months.. Then the dose of preservation of this drug is injected once every 6 months .... It belongs to a group of drugs called olonclotides anti -sensitive (ASO) that targets the basic problem by influencing RNA production .... Spinnerza can slow down the progression of SMA disease ... In addition, it can reduce muscle weakness ... but its effectiveness may vary between people .... Read more: Is migraine pain?. Enters a non -currency virus that includes an alternative gene ... The virus gives new DNA cells to replace it with a missing or mutated gene ... This gene helps the body produce SMN protein that helps improve the function of motor neurons .... These symptoms reduce SMA and help the patient have a longer life ... The doctor prescribes this medicine at a dose .... Risdiplam is a drug that has not yet been approved by the FDA, but doctors are still developing and investigating its effects.. It is easier to use microdiplamic drugs than zulgenzema and spinraza because it should be taken orally every day after meals and can even be used for children under two months.. This helps to correct SMN2 gene problems to prevent protein production. People who have used it have shown improvement of motor performance .... In general, the sooner people with SMS start to take these drugs, the better the results .... Other auxiliary treatments with SMA require a change in lifestyle so that this change sometimes affects all family members. The most common auxiliary methods are: respiratory assistance is a variety of respiratory vehicles to control SMA.. Some of these devices provide oxygen or minimum air pressure and you can easily use them at home .... Many people with mild respiratory problems should only use these devices during sleep or when breathing is difficult (such as infection) .... If you have more problems with the progression of the disease, you may need more and more respiratory care .... When the respiratory muscles are too weak, you should use respiratory devices that help both the tail and exhale .... Esfarne or Brace If you or your child have muscle skeletal complications (such as scoliosis or contrast), you may need a brace or other support tool to keep the body in a comfortable and safe position.. In this case, you may need a brace or splint to support hand, wrist, foot or ankle .... Using this tool will help you use your motor organs without any danger .. If you have scoliosis, you may need a brace brace to support the body and prevent spine curvature .... In advanced SMA cases, you may need to remove your position on the wheelchair to prevent the waist from bending to one side (which exacerbates scoliosis) .... Wheelchair or Walker may need an auxiliary device to make it easier to walk ... Depending on your circumstances, there are many auxiliary tools you can use .... Some of the most common options available include cane, walker and wheelchair .... Physiotherapy and SMA occupational therapy can usually improve the effects of motor limitation caused by muscle atrophy by physical exercises and rehabilitation approaches .... While physiotherapy techniques cannot repair nerves or muscles or soothe muscle atrophy, they can help you optimize strength, control and harmony.. You can also prevent damage by learning how to control your weight and organs. Physiotherapy and occupational therapy can usually help prevent muscle contrast ... Read more: What are the symptoms, symptoms and treatment of brain tumor treatment?. Online consultation with the best neurologists in some situations that are very severe symptoms and cannot be controlled by medication and auxiliary treatments, receive surgery and cannot be controlled.. The process that may be useful for improving symptoms of spinal musculoskeletal atrophy is: botulinum toxin, when muscle dryness causes one's mobility and injects botulinum toxin, which is a strong muscle relaxant .... Oral muscle relaxants usually cause unnecessary side effects.. This method also has much less side effects .... Removing the contractor When the muscle contrast is very painful or disrupted in your engine, surgery can be helpful in some conditions ... Spine surgery caused by scoliosis caused by SMA can be very severe and changes in bone structure can affect the chest area and make breathing difficult.. In this case, scoliosis surgery may be necessary .... Sometimes the surgeon also provides a support tool such as a rod using surgery near the spine to support the spine and help keep it straight.. Read more: Symptoms, types, causes and treatment of trachestomy fractures in some circumstances are the most effective way to control respiratory problems caused by spinal muscular atrophy.. This surgery involves placing the respiratory tube directly in the throat .... Some symptoms of spinal musculoskeletal disease are similar to symptoms caused by neuromuscular disorders such as muscle dystrophy.. Diagnosis of SMA to diagnose the cause of symptoms performs a physical examination .... In addition, your doctor may prescribe one or more tests to diagnose SMA: Blood Test: Enemy test and blood protein can examine the high level of creatine kinase ... Worn muscles or analysis of this enzyme in blood flow ... Genetic testing: This is a blood test that diagnoses problems with the SMN1 gene .... Generally, genetic testing is a diagnostic tool that is effective in finding a modified SMN1 gene in finding a maximum of 5 %.. Neural Guidance Test: Electromiogram (EMG) measures electrical activity of the muscles and nerves .... Biopsy of Muscle: Your doctor may rarely recommend biopsy of the muscle.. This process involves eliminating a small amount of muscle tissue and sending it to the lab for more examination .... Biopsy can detect atrophy or loss of muscle.. Read more: stroke; Types, causes, symptoms, ways to prevent and treat spinal cord electricity during pregnancy?. If you are pregnant and have a family history of SMA, prenatal tests can determine if your fetus has the disease.. Keep in mind that these tests may partially increase the risk of abortion ... The most common prenatal tests used for SMA are amniocentesis: During the amniocentesis process, gynecologist enters a very thin needle through the abdominal wall to remove a small amount of fluid from the amniotic bag.. A pathologist then examines this fluid for diagnosis or absence of SMA. This test is usually performed after the 14th week of pregnancy .... Pair Line Sampling (CVS): During this experiment, a gynecologist eliminates a small sample of placenta tissue through the cervix or mother's stomach.. The pathologist then examines this sample for SMA test .... CVS test can be performed in the tenth week of pregnancy ... SMA prevention methods of spinal cord muscular disease are an inherited disease .... If you or your spouse make a mutated gene that causes illness, a genetic counselor can talk to you about the possibility of your child or carriers grow.. You can take some precautions to reduce the risk of SMA transfer. There is a process called genetic diagnosis before transplantation (PGD) that specifies fetuses that do not have mutated genes ... The physician then performs a healthy fetus implantation in the uterus during a process called IVF (IVF).. The PGD process ensures that your child has two healthy SMN1 genes and does not develop SMA .... The side effects of some of the most common complications of spinal musculoskeletal disease include bowel and bladder problems with voluntary skeletal muscles as well as the involuntary smooth muscle of internal organs .... In the mild shapes of SMA, it usually does not affect the control of the intestine and the bladder ... However, in the more advanced cases of the disease, the preservation of the intestine and the bladder may be challenging for the person .... Hip hip joint displacement (HIP) often affects patients who are unable to walk ... This disorder often occurs quickly in patients with SMA type 2 .... In a study of the complications of spinal cord musculoskeletal atrophy, the researchers concluded that all patients with SMA type 2 were suffering from joint displacement by the age of 6. Patients with SMA are type 1, 2 and 3 of the acetabolol cavity. In both types of disease, the acetabular index is higher than usual .... Bone fracture, regardless of the type of SMA disease, is very common among these patients .... Bone fracture is often caused by low bone mineral density and affects most of the femur.. In general, in patients with a variety of SMA, bone mineral density decreases over time and increases the risk of fracture as the disease progresses.. Bone fractures usually occur earlier in patients with SMA type 1 earlier .... In general, doing gentle exercises with a specialist physiotherapy guide to SMA can help people with the disease increase their mobility.. Suitable for children and adults Here are some examples of suitable exercises for these people: Swimming is a great aerobic exercise for people .... Even children with SMA type 1 or 2 can enjoy swimming in the pool with the help and support of a physiotherapist or their parents. Putting in the water can also reduce the amount of pressure on the joints and help children with the disease move their hands and feet with a range of motion.. Walking for people with SMA type 2 and people who have SMA 2 and are capable of hiking can be a great cardiovascular exercise .... In addition, this exercise is also beneficial for heart and bone health .... Cycling, depending on what children with SMA are able to do, fixed bikes can usually be a great way to practice body muscles ... Cycling is also a good resistance exercise.. Yoga and SMA yoga have many benefits for people with SMA .... This exercise includes deep breathing and meditation exercises and children can do it with their parents .... Yoga also includes stretching, motion and positioning that can eliminate muscles, prevent contrast and strengthen joint movement ... Get an urgent consultation for immediate online authority ... Reservation of Wii Sports, Just Dance and other gesture amplifiers can play video games for the child that makes him move .... Even ordinary video games (such as Super Brothers or Lego) that do not need too much movement allows children to entertain and communicate with their peers.. Bubble to build an account is a great job as it is just as fun .... To do this, ask your child to stand or persuade them to use their respiratory muscles to build a bubble with bubbles.. Horse riding, playing with wheelchairs or anything else that makes sitting on the right can be effective ... Any activity that includes the central muscles of the children and encourages them to sit properly .... Even for people who are more severe SMA and sit on wheelchairs, these exercises increase their heart rate ... Note: Don't exercise too much .... If you feel pain, avoid exercising because you have to keep your energy a little ... If your child is suffering from SMA, tell them to stop exercising whenever he feels too much pressure .... Avoid using devices or activities that cause crashes.. For example, if you have SMA type 1 or 2, avoid exercises that need to be balanced, such as hiking on the treadmill .... Sources: Medical News Today Top Doctors: Dr. ... Maryam Soleimani | Doctor.. Javad Ameli Dr. ... Reza Sanjari Dr. ... shahab kamali ardakani dr ... behrouz sadeghi hariri dr ... Betul Dadkhah dr ... Dr. Mohammad Samadi ... Dr. Mohammad Samadi .... Nasser Mehraban Was this article useful for you? ... an average score of 4.3 / 5 .... 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