Advanced searches left 3/3
Search only database of 8 mil and more summaries

Spinal Muscular Atrophy Type 4

Summarized by PlexPage
Last Updated: 02 July 2021

* If you want to update the article please login/register

General | Latest Info

Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting in muscles used for movement. It is caused by loss of specialized nerve cells, called motor neurons that control muscle movement. Weakness tends to be more severe in muscles that are close to the center of the body compared to muscles away from the body's center. Muscle weakness usually worsens with age. There are many types of spinal muscular atrophy that are caused by changes in same genes. Types differ in age of onset and severity of muscle weakness; however, there is overlap between types. Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X - link infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. Spinal muscular atrophy type 0 is evident before birth and is the most and most severe form of the condition. Affected infants move less in the womb, and as a result, they are often born with joint deformities. They have extremely weak muscle tone at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth. Spinal muscular atrophy type I is the most common form of the condition. It is a severe form of disorder with muscle weakness evident at birth or within the first few months of life. Most affected children cannot control their head movements or sit unassisted. Children with this type may have swallowing problems that can lead to difficulty feeding and poor growth. They can also have breathing problems due to weakness of respiratory muscles and an abnormally bell - shape chest that prevents lungs from fully expanding. Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure. Spinal muscular atrophy type II is characterized by muscle weakness that develops in children between the ages of 6 and 12 months. Children with this type can sit without support, although they may need help getting to seat position. However, as muscle weakness worsens later in childhood, affected individuals may need support to sit. Individuals with spinal muscular atrophy type II cannot stand or walk unaided. They often have involuntary trembling in their fingers, spine that curve side - to - side, and respiratory muscle weakness that can be life - threatening. The life span of individuals with spinal muscular atrophy type II varies, but many people with this condition live into their twenties or thirties. Spinal muscular atrophy type III typically causes muscle weakness after early childhood. Individuals with this condition can stand and walk unaided, but over time, walking and climbing stairs may become increasingly difficult. Many affected individuals require wheelchair assistance later in life. People with spinal muscular atrophy type III typically have normal life expectancy.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

IMPORTANT SAFETY INFORMATION

In several forms of SMA, respiratory muscle weakness is a significant problem. Its most common cause of death in chromosome 5 SMA types 1 and 2, though not the only cause. When respiratory muscles weaken, air doesnt move into and out of lungs very well, with subsequent adverse effects on general health. Signs of weakening respiratory muscles include headaches, difficulty sleeping at night, frequent yawning or sighing during the day, excess sleepiness during the day, poor concentration, difficulty lying flat, chest infections, and, eventually, heart damage and respiratory failure. Often, in infantile - onset SMA, muscles between affect baby's ribs are very weak, while diaphragm muscle stays fairly strong. This causes child to appear to be breathing by moving their belly rather than their chest. The body can also appear to be pear - shaped. In recent years, availability of portable, effective ventilation devices has created more options for newborns with SMA, and in some cases, has greatly extended life. Assist ventilation also helps children and adults with different forms of SMA. Many physicians advise starting out with noninvasive ventilation, which generally means that air is delivered under pressure through a mask or mouthpiece. This kind of system comes in many forms and can be used as many hours of day and / or night as necessary. It can easily be removed for eating, drinking, and talking. When noninvasive ventilation isnt sufficient, ventilation assistance can be delivered through tracheostomy surgical hole in the trachea, or windpipe. Air under pressure is then delivered through a tube in tracheostomy site. After a period of adjustment, it is usually possible for people to eat, drink, and talk with a tracheostomy tube. Other necessary aspects of respiratory care in SMA include clearance of respiratory secretions, sometimes also achieved with mechanical device, and prevention of infection. Insufflator - exsufflator is one type of device that can assist with clearing respiratory secretions from the airway. The device applies positive pressure to the airway and then rapidly reverses to negative pressure, mimicking natural cough. The Coughassist, made by Philips Respironics, is an example of this type of device. Another type of airway clearance aid is the high - frequency chest wall oscillation device. This device is a vest that rapidly inflates and deflates, vibrating chest and creating mini - coughs that dislodge mucus from small airways, moving it toward larger airways from which it can be more easily coughed out. The Incourage system, made by Philips Respironics, is an example. To prevent respiratory infections, almost everyone with SMA should get a flu shot every year. Other precautions include staying away from crowds and getting adequate rest and nutrition. The Mda Care Center team can advise you about respiratory care, flu shots, and related matters. Swallowing problems occur when muscles of the mouth and throat are weak. Babies with infantile - onset SMA usually have trouble swallowing and sucking. Sucking weakness can lead to dehydration and poor nutrition, while swallowing weakness can lead to obstruction of the airway and respiratory infections from inhaling food or liquids.


What is spinal muscular atrophy in adults?

Since there is no cure, management of SMA is mostly about minimizing the impact of symptoms; especially those that might interfere with persons quality of life. Like you might expect, it is mostly about diet and exercise. Reducing excess body weight and staying in shape is the most effective way to help make symptoms of SMA more manageable. In addition to physical therapy, occupational therapy treatment for spinal muscular atrophy is very common. That mostly means performing fitness - appropriate weight training along with range of motion exercises. Some individuals also find use of supportive orthotic splints and braces is helpful, but it depends on the person's symptoms.


What Is SMA?

The main symptoms of SMA are muscle weakness and wasting or breakdown that get worse over time. However, when symptoms start and symptom severity depends on which of five SMA types of person has. Earlier this onset of symptoms, more severe disease process, Dr. Chiriboga say. Spinal muscular atrophy Type 0 is the most severe form and starts in babies before birth, with babies having difficulty moving, swallowing, and breathing at birth. Sma Type 1 is the most common form of SMA disease and starts in early infancy, usually in babies less than 6 months of age. Symptoms include low muscle tone, breathing and swallowing problems, and eventually inability to sit up without help. Spinal muscular atrophy Type 2 is found in children between the ages of 6 and 18 months. These children slowly lose muscle strength and function over time, and many lose the ability to sit and stand on their own by adolescence and develop breathing problems. Spinal muscular atrophy Type 3 starts in early childhood, adolescence, and early adulthood, with slowly progressive symptoms including falls and trouble walking up and down stairs. Type 4 begins in people in their 20s and 30s and has mild to moderate symptoms of muscle weakness, tremor, and mild breathing problems. Without treatment, muscle weakness gets progressively worse over time in all SMA types.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What is SMA type 4?

Other forms of SMA are not related to deficiency of SMN protein, arising instead from defects in different genes on different chromosomes. These forms vary greatly in severity and in muscles most affected. Spinal Muscular Atrophy with respiratory distress, also know as autosomal recessive distal Spinal Muscular Atrophy, is a rare form of SMA caused by defects in IGHMBP2 Gene. Infants with SMARD have severe respiratory distress as well as muscle weakness; there tends to be high frequency of intrauterine growth restriction and premature birth. A number of genetic causes have been identified for distal SMA, which is associated with varying symptoms and severity. Some of genes shown to cause various forms of distal SMA include UBA1, DYNC1H1, TRPV4, PLEKHG5, GARS, and FBXO38. Some of these forms of SMA overlap with another disease called Charcot - Marie - Tooth disease. Diagnosis typically depends on the degree of motor versus sensory symptoms observed in patient. A Mutation in X - chromosome Gene called UBA1 causes X - link SMA. This form resembles SMA type 1 in its very early age of onset and severity of symptoms. Joints as well as muscles may be affected by X - link SMA. This rare disorder is characterized by hypotonia, lack of reaction to stimuli, and congenital contractures. Like most X - link diseases, it's much more likely to occur in males than in females. While all known forms of SMA are genetic, they result from defects in different genes and have different inheritance patterns and implications for family planning. If you or your child has been diagnosed with non - chromosome 5 - related SMA, talk with your doctor and genetic counselor to find out more about genetics and prognosis for particular type of SMA involve. Rudnik - Schoneborn, S. Et al. Congenital heart disease is a feature of severe infantile Spinal Muscular Atrophy. J. Med. Genet. Doi: 10. 1136 / jmg. 2008. 057950 Grotto, S. Et al. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients. J. Neuromuscul. Dis. Doi: 10. 3233 / JND - 160177 Menke, L. A. Et al. Congenital heart defects in Spinal Muscular Atrophy type I: clinical report of two siblings and review of literature. Am. J. Med. Genet. Part. Doi: 10. 1002 / ajmg. A32233 Butchbach, M. E. R. Copy Number Variations in Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front. Mol. Biosci. Doi: 10. 3389 / fmolb. 2016. 00007 Arnold, W. D., Kassar, D. & Kissel, J. T. Spinal Muscular Atrophy: Diagnosis and management in new therapeutic era. Muscles and Nerve. Doi: 10.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Diagnosis

This TOOL does not PROVIDE MEDICAL ADVICE. It is intended for general information purposes only and does not address individual circumstances. It is not a substitute for professional MEDICAL ADVICE, diagnosis or treatment and should not be relied on to make decisions about your health. Never ignore professional MEDICAL ADVICE in seeking treatment because of something you have read on WebMD Site. If you think you may have a MEDICAL emergency, immediately call your doctor or dial 911. National Institute of Neurological Disorders and Stroke: NINDS Spinal Muscular Atrophy Information. New England Journal of Medicine: single - Dose Gene - Replacement Therapy for Spinal Muscular Atrophy. Muscular Dystrophy UK: developing genetic Therapy for Spinal Muscular Atrophy. Science Advances: Gene Therapy rescues disease phenotype in Spinal Muscular Atrophy with respiratory distress type 1 mouse model. Columbia University Department of Neurology: q & on Spinraza Treatment for Spinal Muscular Atrophy patients.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Treatment

Two new treatments for SMA gene therapy for SMA Type 1 and drug for both children and adults with SMA are showing promising results. Gene replacement therapy that goes by the brand name Zolgensma is a one - time infusion that delivers functional copy of defective or missing gene to affected cells. Nusinersen is medication injected into spinal fluid that increases the body's ability to produce protein called survival motor neuron. Before these options become available, treatment of SMA consists of managing symptoms, providing respiratory support as needed and preventing disease complications.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Outlook

Sma is a genetic condition that can affect children or adults, depending on type. A person's outlook will depend on the severity of symptoms. Infants with severe SMA may experience respiratory disease because muscles that support breathing are weak. This complication can be fatal in some cases. Many people with milder forms of SMA can expect to live as long as person without SMA, although some may need extensive medical support. It is not possible to prevent SMA, but medication, physical therapy, and other strategies can help person live a full and active life. As researchers learn more about SMA, new and experimental treatment options are showing promise for treating, preventing, or even curing the condition in the future. People with a family history of SMA who are planning to start a family may wish to seek genetic counseling first.


What Happens in SMA?

The most common form of SMA is caused by defects in both copies of survival motor neuron 1 gene on chromosome 5q. This gene produces survival motor neuron protein which maintains health and normal function of motor neurons. Individuals with SMA have insufficient levels of SMN protein, which leads to loss of motor neurons in the spinal cord, producing weakness and wasting of skeletal muscles. This weakness is often more severe in trunk and upper leg and arm muscles than in the muscles of hands and feet. There are many types of spinal muscular atrophy that are caused by changes in same genes. Less common forms of SMA are caused by mutations in other genes, including the VAPB gene located on chromosome 20, DYNC1H1 gene on chromosome 14, BICD2 gene on chromosome 9, and UBA1 gene on X chromosome. Types differ in age of onset and severity of muscle weakness; however, there is overlap between types.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Signs & Symptoms

Symptoms of SMA depend on its type and severity, as well as the age at which it develop. Muscle weakness and twitching, difficulty breathing and swallowing, changes in shape of limbs, spine, and chest due to muscle weakness, difficulty standing, walking, and possibly sitting at birth, Infants with SMA type 1 have weak muscles, minimal muscle tone, and feeding and breathing problems. With SMA type 3, symptoms may not appear until the second year of life. In all of its forms, main features of SMA are muscle weakness and muscle wasting. These occur because nerves that control movement, called motor neurons, are unable to give muscles signal to contract. Weakness tends to affect muscles that are closer to the center of the body. Motor neurons normally send these signals from the spinal cord to muscles via motor neurons axon.S in SMA, either motor neuron or axon itself does not work or stops working. Sma is a degenerative disease, and symptoms tend to worsen over time. Many of the changes are not strictly symptoms of SMA but complications of resulting muscle weakness.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Causes

Sma happens when motor neurons in the spinal cord and brain stem either do not work or stop working because of changes in genes know as survival motor neuron 1 and SMN2. The Smn1 and SMN2 genes give instructions for creating protein that is necessary for motor neurons to function. Problems with SMN1 will lead to SMA, while issues with SMN2 will affect the type and severity of SMA. One in 40 - 60 adults has a genetic problem that can lead to SMA. A person can only have SMA if both of their parents have problem with this gene. However, even if both parents have this fault, there is only a 1 in 4 chance that the child will inherit it.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Standard Therapies

While being monogenetic Neuromuscular Disease, resulting phenotypic spectrum is complex and SMA is generally perceived as a systemic disease. Accordingly, caring for patients with SMA requires interdisciplinary management of respiratory, nutritional and gastroenterological, orthopedic, and psychosocial issues. General treatment recommendations were published in 2007 in the first consensus statement on standards of care in SMA. Nevertheless, implementation of standards of care is highly variable and is influenced by cultural perspectives, socioeconomic factors, and availability of regional resources. Due to advances and improvements in care over the last decade, updated version of recommendations on diagnosing SMA and Patient care was published only recently.


What is SMA?

Symptoms of SMA Type 1 show up within the first six months of a child life. Early diagnosis is key to treating SMA. As time passes, motor neurons are lost and ca be restore. Earlier treatment can be start, better chance of slowing progression of this disease. Parents who are planning pregnancy can learn if they are carrying genes for inherited disorders by analyzing small samples of blood or body tissues gathered from cheek swab or blood draw. Expecting parents can also consider genetic testing during pregnancy. Early diagnosis can be completed through standard newborn screenings. Although progress has been make, there are still many states that do not include SMA as part of standard screening complete for newborns.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

logo

Plex.page is an Online Knowledge, where all the summaries are written by a machine. We aim to collect all the knowledge the World Wide Web has to offer.

Partners:
Nvidia inception logo

© All rights reserved
2021 made by Algoritmi Vision Inc.

If you believe that any of the summaries on our website lead to misinformation, don't hesitate to contact us. We will immediately review it and remove the summaries if necessary.

If your domain is listed as one of the sources on any summary, you can consider participating in the "Online Knowledge" program, if you want to proceed, please follow these instructions to apply.
However, if you still want us to remove all links leading to your domain from Plex.page and never use your website as a source, please follow these instructions.