Materiały źródłowe

• #1 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. Theres no cure for SMA, but certain therapies and medications can help manage symptoms. […] The weakness in SMA tends to be more severe in the muscles that are close to the center of your body (proximal muscles) than in the muscles farther away from your bodys center (distal muscles). Muscle weakness tends to worsen with time. […] In general, the main symptom of SMA is muscle weakness typically, in the muscles closest to the center of your body. But the symptoms vary based on the type. […] Symptoms of SMA type 0 include decreased fetal movements, arthrogryposis, decreased muscle tone (hypotonia), severe muscle weakness, and severe breathing issues.

• #2 Spinal Muscular Atrophy (SMA) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a rare hereditary genetic condition in which muscles throughout the body are weakened because nerve cells in the spinal cord and brainstem do not work properly. SMA is the number one genetic cause of infant mortality. […] Type 1 is the most common and severe form of SMA. Its sometimes called Werdnig-Hoffmann disease or infantile-onset SMA. Children with type 1 have limited movement, cant sit without support, and have trouble breathing, feeding, and swallowing. Symptoms begin at birth or within the first six months of life. Many children with type 1 do not live past age 2. […] Symptoms of spinal muscular atrophy (SMA) vary greatly depending on the type. Children with the more serious form of SMA (Type 1) usually have more severe symptoms that are noticeable within the first six months of life. Those with milder forms have less severe symptoms that may not be noticeable until the child is 18 months or older. […] Symptoms of SMA may include: Muscle weakness and decreased muscle tone, Limited mobility, Breathing problems, Problems eating and swallowing, Delayed gross motor skills, Spontaneous tongue movements, Scoliosis (curvature of the spine).

• #3 Spinal Muscular Atrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect motor neurons. The skeletal muscle weakness caused by SMA is often more severe in the trunk (chest) and upper leg and arm muscles than in muscles of the hands and feet. People with SMA experience respiratory infections, scoliosis, and joint contractures (chronic shortening of muscles and tendons). […] Type 0 is a very rare and severe type of SMA with symptoms beginning prior to birth. At birth, the infant has severe weakness and difficulty breathing and feeding. […] Type l (also known as Werdnig-Hoffman disease or infantile-onset SMA) is the most common form of SMA. It is usually evident before 6 months of age. Symptoms include severe muscle weakness and trouble breathing, coughing, and swallowing. […] Type ll is usually first noticed between 6 and 18 months of age. Children with this type of SMA can sit without support but are unable to stand or walk without help.

• #4 Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy

  In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. While in the past, infants with SMA typically did not survive more than two years, today most doctors now consider SMN-related SMA to be a continuum and prefer not to make rigid predictions about life expectancy or weakness based strictly on age of onset. […] SMA is the most common genetic cause of mortality in infants.

• #5 Signs and Symptoms of Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy/signs-and-symptoms

  In spinal muscular atrophy (SMA) types 0 through 4, symptoms vary on a continuum from severe to mild based on how much functional SMN protein there is in the nerve cells called motor neurons. […] Mothers of children affected by SMA type 0 may report a decrease in fetal movement in late pregnancy and give birth earlier. These newborns present with severe weakness, hypotonia, and heart defects. […] Children who have noticeable SMA symptoms at or shortly after birth usually are very weak; have difficulty breathing, sucking, and swallowing; and never reach the developmental milestone of being able to sit on their own (SMA type 1 or Werdnig-Hoffmann disease). […] SMA type 2 (aka Dubowitz disease, or intermediate SMA) symptoms begin in babies at approximately 6 to 18 months of age who learn to sit unassisted but do not stand or walk independently.

• #6 Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy

  SMA symptoms cover a broad spectrum, ranging from mild to severe. […] The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased. […] Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. […] There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn correlates with how many copies of SMN2 genes a person has.

• #7 Spinal muscular atrophy: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/

  Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body’s center (distal). The muscle weakness usually worsens with age. […] Spinal muscular atrophy type 0 is evident before birth and is the rarest 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 (contractures). They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure.

• #8 SMA Progression: What You Need to Know

  https://www.webmd.com/brain/spinal-muscular-atrophy-progression

  How your spinal muscular atrophy (SMA) changes over time depends on many things, including which of the four types of SMA you have. Theyre based on when symptoms first show and the highest physical development milestone you achieved when they started. […] In the other four types, a person with SMA has muscle weakness, and most start to have trouble breathing. Symptoms can range from very severe to mild. […] The muscles closest to the center of the body will be affected first. Theyll also feel more impact than muscles farther away. […] For some, the hands may become less strong. But, generally, the hands keep their strength the longest. Even if they weaken, you could still be able use a computer and do day-to-day things. […] Another issue for those with SMA is scoliosis. Thats a side-to-side curve in the spine, and many children with SMA get it early in life. Scoliosis happens because SMA weakens the muscles that support the spine.

• #9 Spinal Muscle Atrophy: Symptoms, Causes and Treatment

  https://lonestarneurology.net/blog/what-is-spinal-muscle-atrophy/

  Spinal muscular atrophy, or SMA as a medical abbreviation, is a hereditary disease that occurs as a result of a mutation in a gene that is involved in the process of human movement. As a result of the disease, the destruction of motor neurons occurs. These neuronal cells are found in the brainstem and spinal cord. Their main purpose is to control the basic movement functions such as pulling, squatting, pushing, breathing, rotation and others. […] It has been established that the younger the patient, the more difficult the spinal muscular atrophy. Such a disease as SMA is serious and requires urgent treatment, especially in children. […] Without proper treatment, small patients do not live up to three years due to the fact that they cannot fully breathe. […] The symptoms of SMA can be either mild or severe. Among the main muscular atrophy symptoms are: Weakness of voluntary muscles, especially those closer to the center of the body, such as the muscles of the shoulders, hips, and upper back; Loss of muscle control; Deterioration of movement up to immobility.

• #10 Spinal muscular atrophy – Wikipedia

  https://en.wikipedia.org/wiki/Spinal_muscular_atrophy

  Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. The common feature is the progressive weakness of voluntary muscles, with the arm, leg, and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures. […] The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. […] The symptoms vary depending on the SMA type, the stage of the disease as well as individual factors. Signs and symptoms below are most common in the severe SMA type 0/I: Areflexia, particularly in extremities; Overall muscle weakness, poor muscle tone, limpness or a tendency to flop; Difficulty achieving developmental milestones, difficulty sitting/standing/walking; In small children: adopting of a frog-leg position when sitting (hips abducted and knees flexed); Loss of strength of the respiratory muscles: weak cough, weak cry (infants), accumulation of secretions in the lungs or throat, respiratory distress; Bell-shaped torso (caused by using only abdominal muscles for respiration) in severe SMA type; Fasciculations (twitching) of the tongue; Difficulty sucking or swallowing, poor feeding.

• #10 Spinal muscular atrophy – Wikipedia

  https://en.wikipedia.org/wiki/Spinal_muscular_atrophy

  The severity of SMA symptoms is broadly related to how well the remaining SMN2 genes can make up for the loss of function of SMN1. This partly depends on the number of copies of the SMN2 gene present on the chromosome. […] In the absence of pharmacological treatment, people with SMA tend to deteriorate over time. Recently, survival has increased in severe SMA patients with aggressive and proactive supportive respiratory and nutritional support. If left untreated, the majority of children diagnosed with SMA type 0 and 1 do not reach the age of 4, recurrent respiratory problems being the primary cause of death.

• #11 Spinal Muscular Atrophy (SMA) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/sma.html

  Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). […] SMA can affect a child’s ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing. […] The signs of SMA can vary. In general, the later the symptoms appear, the less severe they are. […] The five types of SMA are categorized by the disease’s severity and the age when symptoms begin: Type 0, also called prenatal SMA, affects babies before they are born. This is very rare, but also very severe. The baby is born extremely weak and has trouble breathing. They may not live longer than a few months. […] Type I, sometimes called infantile-onset SMA or Werdnig-Hoffmann disease, begins to affect infants from birth up to 6 months of age, with most babies showing signs of the disease by 3 months. This is also considered a severe form of SMA. These babies look floppy and dont move a lot. They can have trouble eating and breathing, and dont learn to roll or sit at the expected age. Without treatment, children with this type dont usually live more than 2 years. With treatment, children with type I SMA are starting to live longer.

• #12 Spinal Muscular Atrophy (SMA): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/orthopedics/spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a group of hereditary diseases that affects the central nervous system, peripheral nervous system, and skeletal muscle movement. In SMA, the nerves in your brain and spinal cord that control muscle strength and movement break down. As a result, they cant send signals from your brain to your muscles to make them move, making muscles weaken and shrink. This causes problems with speaking, walking, breathing, and swallowing. […] The signs and symptoms of spinal muscular atrophy (SMA) vary based on the stage and severity of the disease. These symptoms typically develop without treatment or when a patient receives only supportive care. […] Mothers of children who have SMA Type 0 often report a decrease in fetal movement in late pregnancy and give birth early. Symptoms for SMA Type 0 in their babies include: Severe weakness, Respiratory failure, Significant contractures (arthrogryposis), Hypotonia (low muscle tone), Heart defects, Facial paralysis, Lack of reaction to stimuli.

• #12 Spinal Muscular Atrophy (SMA): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/orthopedics/spinal-muscular-atrophy-sma

  These severe symptoms and signs are usually present at or shortly after birth for children with SMA Type 1: Weakness, Difficulty breathing, Difficulty feeding (sucking and swallowing). […] Babies with SMA Type 2 have normal cognition and can sit independently, but are rarely able to stand or walk. Other symptoms include: Muscle weakness close to the center of the body, particularly in the lower limbs, Trouble breathing during sleep. […] SMA type 3 usually shows up in older childhood and adolescence and includes: Trouble walking and running, climbing steps, and rising from a chair, Hand tremors, Scoliosis, Joint contractures, or chronic shortening of muscles and tendons around joints, Respiratory infections. […] Most SMA Type 4 symptoms begin to develop after the age of 35 and include: Muscle weakness in the legs and hips, Muscle twitching and aching, Hand and finger tremors. Most people with SMA Type 4 remain mobile into their 60s, after which they may need walking aids like a cane.

• #13 Spinal Muscular Atrophy: Causes, Symptoms, and Treatment

  https://www.webmd.com/brain/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) most often affects babies and children and makes it hard for them to use their muscles. When your child has SMA, there’s a breakdown of the nerve cells in the brain and spinal cord. The brain stops sending messages that control muscle movement. […] When that happens, your child’s muscles get weak and shrink, and children can have trouble controlling head movement, sitting without help, and even walking. In some cases, they can have trouble swallowing and breathing as the disease gets worse. […] Symptoms vary a lot, depending on the type of SMA: […] Type 0. This is the rarest and most severe form of SMA and develops while you’re still pregnant. Babies with this type of SMA move less in the womb and are born with joint problems, weak muscle tone, and weak muscles for breathing. They often do not survive due to breathing problems.

• #14 Spinal Muscular Atrophy (SMA) Painful Symptoms, Treatment

  https://www.emedicinehealth.com/is_spinal_muscular_atrophy_painful/article_em.htm

  Symptoms of spinal muscular atrophy (SMA) vary in severity depending on the type. […] Symptoms of SMA type I include: Reduced muscle tone (hypotonia), Severe weakness, Diminished limb movements, Lack of tendon reflexes, Muscle twitching (fasciculations), Swallowing and feeding difficulties, Difficulty breathing, Newborns dont achieve any motor milestones, Facial paralysis, Lack of reaction to stimuli, Congenital heart defect, Scoliosis or other skeletal abnormalities may develop as children get older. […] Symptoms of SMA type II include: Muscle weakness close to the center of the body, Weakness involves the lower limbs more than the upper limbs, Tremor in the hands, Scoliosis, Limited joint movement (contractures), Respiratory complications. […] Symptoms of SMA type III include: Foot deformities, Scoliosis, Respiratory muscle weakness. […] Symptoms of SMA type IV include: Muscles closer to the center of the body (proximal muscles) usually are more affected, Legs tend to weaken before the arms, Hands may weaken eventually, but they usually remain strong enough for typing on a computer keyboard and other basic functions.

• #15 Spinal muscular atrophy – TREAT-NMD

  https://www.treat-nmd.org/resources-and-support/neuromuscular-disease-information/spinal-muscular-atrophy/

  Spinal muscular atrophy (SMA) is an inherited neuromuscular condition affecting the central nervous system, peripheral nervous system, and voluntary muscle movement. Most of the nerve cells that control muscles are in the spinal cord and, in SMA, the muscles don’t receive signals from the brain correctly as the nerves are damaged causing progressive muscle weakness and loss of movement due to muscle wasting (atrophy). […] The most common form of SMA is chromosome 5 (SMN-related) SMA and, due to wide variability in age of onset, progression, and symptoms, it is classified into five different types. Broadly speaking, Type I never sit; those with Type II never walk; those with Type III walk but may lose the ability later in life and those with Type IV experience adult-onset of symptoms resulting in fatigue leading to muscle weakness. Patients diagnosed with Type 0 generally die from respiratory failure by 6 months of age and sometimes within the first month of life.

• #15 Spinal muscular atrophy – TREAT-NMD

  https://www.treat-nmd.org/resources-and-support/neuromuscular-disease-information/spinal-muscular-atrophy/

  Signs of Type 0 SMA may occur before birth. Mother may report a decrease in foetal movement in late pregnancy and give birth prematurely. Newborns with type 0 present with severe weakness and heart defects. […] Type I SMA is also called Werdnig-Hoffmann Disease. The diagnosis of this type is usually made before 6 months of age, often a lot earlier. Usually, a baby with Type I is very ‘floppy’ and is never able to lift their head or achieve the motor milestones expected in the early months of life. They are never able to sit up unsupported. With mechanical ventilation and feeding tubes, children with SMA Type I can survive for a number of years. […] Most cases of SMA Type II are diagnosed by 15 months. Children with this type can sit unsupported when they are placed in a sitting position, although they are often unable to reach that position without help. Some children with this type may be able to stand with the aid of assistance or bracing and/or a standing frame. People with SMA Type II are likely to experience muscle weakness on both sides of their body and difficulties in moving arms and legs. Weak breathing muscles may leave individuals vulnerable to chest infections.

• #16 Spinal muscular atrophy (SMA)

  https://www.biogentriallink.com/en-us/home/conditions/spinal-muscular-atrophy.html?searchCondition=spinal+muscular+atrophy&recruitingStatus=recruitingOnly

  Spinal muscular atrophy (SMA) is an inherited disease that is caused by damage to certain nerve cells in the brain and spinal cord called motor neurons. This damage gets worse over time, affecting actions like swallowing, breathing, sitting and walking. […] SMA has several types, based on how severe the symptoms are and at what age they start. […] This type of SMA is very rare and severe. A mother can sense a child is not moving much or not at all while she’s pregnant. After birth, the child is weak with very little muscle tone. Children with type 0 SMA generally survive for less than 6 months due to weak breathing muscles leading to respiratory failure. […] This is also called Werdnig-Hoffmann disease, or infantile SMA. SMA type I is the most common form, usually diagnosed between birth and 6 months of age. Children with type I have decreased muscle tone and struggle to suck, swallow and breathe. They often have trouble sitting unassisted. If not treated, type I can be fatal early on in life.

• #17 Spinal Muscular Atrophy (SMA) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Untreated, it is a neurodegenerative, progressive disease, which can be fatal in its more severe forms. […] Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Each child may experience symptoms differently. There are four types of SMA based on symptoms and age of onset: […] Type I SMA (also called Werdnig-Hoffman or infantile-onset SMA) This is the most severe type of SMA and may be present at birth or symptom onset maybe later, before age 6 months. Infants have problems holding their head, sucking, feeding, and swallowing, and they typically move very little. The muscles of the chest are also affected. The motion of the tongue is described as having „worm-like” movements. Untreated patients typically require full-time ventilator support by age 2, and life expectancy is often shortened.

• #18 Spinal muscular atrophy – UF Health

  https://ufhealth.org/conditions-and-treatments/spinal-muscular-atrophy

  Symptoms in an infant: Breathing difficulty with shortness of breath and labored breathing, leading to a lack of oxygen. […] Feeding difficulty (food may go into the windpipe instead of the stomach). […] Floppy infant (poor muscle tone). […] Lack of head control. […] Little movement. […] Weakness that gets worse. […] Symptoms in a child: Frequent, increasingly severe respiratory infections. […] Nasal speech. […] Posture that gets worse. […] With SMA, the nerves that control feeling (sensory nerves) are not affected. So, a person with the disease can feel things normally. […] Without treatment, children with SMA type I rarely live longer than 2 to 3 years because of respiratory problems and infections. Survival time with type II is longer, but the disease kills most of those who are affected while they are still children. New therapies that increase the amount of SMN protein have resulted in infants and children living much longer. […] Children with type III disease may survive into early adulthood. But, people with all forms of the disease have weakness and disability that gets worse over time. Adults who develop SMA often have a normal life expectancy.

• #19 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  Symptoms of SMA type 1 include limited head control, hypotonia, lack of reflexes (areflexia), inability to sit without support, abnormal breathing pattern and a bell-shaped chest, difficulty swallowing, which can lead to growth issues (failure to thrive), and facial muscle weakness. […] Symptoms of SMA type 2 include hypotonia and areflexia, progressive muscle weakness that affects your childs legs more than their arms, scoliosis, muscle weakness in your childs chest, which can result in restrictive lung disease, jerky movements in your childs hands (polyminimyoclonus), stiffening of your childs jaw (mandible) joint due to bone fusion (ankylosis), and joint contractures. […] Symptoms of SMA type 3 mainly involve progressive muscle weakness that affects your childs legs more than their arms.

• #20 Spinal Muscular Atrophies (SMAs) – Neurologic Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/neurologic-disorders/peripheral-nervous-system-and-motor-unit-disorders/spinal-muscular-atrophies-smas

  Spinal muscular atrophies include several types of hereditary disorders characterized by skeletal muscle wasting due to progressive degeneration of anterior horn cells in the spinal cord and of motor nuclei in the brain stem. Manifestations may begin in infancy or childhood. They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe types, very early death. […] In spinal muscular atrophy type 0, onset is prenatal; it manifests as decreased fetal movement in late pregnancy and severe weakness and hypotonia at birth. Affected neonates have facial diplegia, areflexia, cardiac defects, and sometimes arthrogryposis. Death due to respiratory failure occurs within the first 6 months. […] Spinal muscular atrophy type 1 (infantile spinal muscular atrophy, or Werdnig-Hoffmann disease) is also present in utero and becomes symptomatic by about age 6 months. Affected infants have hypotonia (often notable at birth), hyporeflexia, tongue fasciculations, and pronounced difficulty sucking, swallowing, and eventually breathing. Death, usually due to respiratory failure, occurs within the first year in 95% and by age 4 years in all.

• #21 Spinal Muscle Atrophy Clinical Presentation: History, Physical Examination

  https://emedicine.medscape.com/article/1264401-clinical

  Functional decline in later-onset SMA types is associated with age of onset of symptoms and maximal function achieved. Loss of function may have a significant impact on their quality of life. Stabilization of functional abilities may be important for individuals with later-onset SMA. […] A long C-shaped thoracolumbar scoliotic curve is present in patients with type II SMA and in half of patients with type III SMA. The curve progresses to a severe and incapacitating deformity if not treated. About 30% of patients have kyphotic deformities as well. […] Tongue fasciculations are pathognomonic of SMA (all types), as opposed to all other neuromuscular diseases of infancy. The presence of tongue fasciculations can aid in the diagnosis, in that 56% of patients exhibit this symptom.

• #22 SMA Signs and Symptoms | Spinal Muscular Atrophy Symptoms

  https://www.togetherinsma.com/en_us/home/introduction-to-sma/sma-symptoms.html

  SMA symptoms may include progressive muscle weakness, floppiness, and muscle wasting (atrophy). Muscle weakness is usually the same on both sides of the body […] Individuals with SMA may experience symptoms differently, and the disease is divided into types based on age of onset and highest motor milestone achieved. There is also a range of severity within each type, and as many as 25% of individuals may not have a precise type. […] Poor head control […] Weak cough […] Weak cry […] Progressive weakness of muscles used to chew and swallow […] Poor muscle tone […] Frog-leg posture when lying […] Severe muscle weakness on both sides of body […] Progressive weakness of muscles that help in breathing (intercostal muscles) […] Muscle weakness […] Swallowing, coughing, and breathing problems may occur but are typically less common

• #23 SMA (Spinal Muscular Atrophy): What It Is, Symptoms & Types

  https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

  The main symptom of SMA type 4 is mild leg weakness. […] Over time, children with SMA experience progressive muscle weakness and loss of muscle control. […] The life expectancy of someone with SMA largely depends on the type: SMA type 0 results in death at birth or within one month of life; SMA type 1 often results in death by the age of 2 without breathing support; life expectancy for SMA type 2 varies but is usually between 20 and 40 years; SMA types 3 and 4 typically dont affect life expectancy.

• #24 Spinal Muscular Atrophy in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/spinal-muscular-atrophy-children

  Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by certain genes. It affects the motor neurons in the spinal cord. It causes muscle wasting and weakness. […] There are several types of SMA that affect children. They vary in the age when symptoms first appear, the seriousness of symptoms, and how symptoms get worse. Symptoms can also occur a bit differently in each child. […] Type 0. This is the rarest and most severe type. It is found before a child is born. Newborns with this type may have joint or heart defects. They also have problems breathing. Many die within 6 months after birth. […] Type 1. This is also called Werdnig-Hoffman or infantile-onset SMA. This is a very severe type of SMA and may be present at birth. Infants have problems holding up their head, sucking, feeding, and swallowing. They tend to move very little. The muscles of the chest are also affected. The child moves their tongue in wormlike movements. Children with type 1 often die by age 2 because of breathing problems.

• #25 Spinal muscular atrophy (SMA) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spinal-muscular-atrophy-sma

  The age of onset for SMA type 2 (also called intermediate SMA) is 7 to 18 months. Symptoms include: muscle weakness in arms, legs and lower torso, weak respiratory muscles, spinal curvature (scoliosis) is often a problem, requiring bracing and surgery. Children with SMA type 2 learn to sit without help, but generally do not stand or walk independently. Although there is always a risk of respiratory complications, children with type 2 SMA usually live to young adulthood and many live longer. […] The age of onset for SMA type 3 (also called Kugelberg-Welander disease) is 18 months to 15 years. This is the mildest form of childhood-onset SMA. Symptoms include: weakness in the leg, hip, shoulder, arm muscles, weak respiratory muscles. Children with SMA type 3 learn to stand and walk. Some lose the ability to walk in adolescence, while others walk well into their adult years. Life span is unaffected.

• #25 Spinal muscular atrophy (SMA) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spinal-muscular-atrophy-sma

  Spinal muscular atrophy is an inherited condition. The nerve cells that service the muscles dont work properly, causing muscle weakness and wasting. A child with SMA type 1 rarely lives beyond three years of age. There is no cure for SMA, but there are some promising treatments being tested in clinical trials. […] SMA is often classified into types 1 to 4 based on the physical milestones achieved. The age at which symptoms start generally indicates how severe the condition is. For example, babies who have symptoms at birth have the most severe symptoms and most do not live beyond the age of two (type 1 SMA). People whose symptoms appear as adults may not develop severe disability and can have a normal life expectancy (type 4 SMA). […] The age of onset for SMA type 1 (also called infantile onset or Werdnig-Hoffmann disease) is birth to six months. Symptoms include: generalised muscle weakness, a weak cry, trouble breathing, swallowing and sucking. Babies with SMA type 1 do not reach the developmental milestone of being able to sit up without help. Their life span rarely exceeds two years of age.

• #26 The signs of SMA 6 to 18 months | My Health Library

  https://www.myhealthlibrary.com.sg/spinal-muscular-atrophy/signs-sma-6-18-months

  Babies may rock from side-to-side but struggle to roll fully onto their side or tummy when lying on their back. Over time, these movements may become even increasingly difficult for them. […] Look out for small tremors or shakes in the fingers or hands when your baby holds their arms out. The shaking may be subtle and challenging to notice. […] Babies may be slow to achieve developmental milestones such as sitting, standing, or walking without support. Although they may reach these milestones, they may lose the ability to do so later. […] Remember, even babies with SMA remain alert, responsive and smiley. They’ll appear happy, not in distress, which makes SMA signs less obvious. If you notice any of the above symptoms, do not hesitate to reach out to your baby’s doctor.

• #27 Signs and Symptoms of Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy/signs-and-symptoms

  When muscle weakness begins in older children and teens who learn to stand and walk but lose these abilities later in life, the disease may be labeled SMA type 3 (aka mild SMA, juvenile onset, or Kugelberg-Welander disease). […] SMA that comes on in the late teens or adulthood is called type 4, or late-onset SMA. […] In SMA types 1 through 4, the muscles closer to the center of the body (proximal muscles) usually are more affected, or at least affected much sooner, than the muscles farther away from the center. […] Scoliosis (spinal curvature) is a common problem in SMA and should be corrected. […] The most serious danger in SMA comes from the weakness of the muscles necessary for breathing. […] Another medical complication in SMA is spinal curvature, usually a side-to-side type of curvature called scoliosis. […] Many children with SMA start to show a scoliotic curve early in life, which often is treated with a brace until the right time for surgery is reached.

• #28 SMA Progression: What You Need to Know

  https://www.webmd.com/brain/spinal-muscular-atrophy-progression

  Scoliosis can be uncomfortable. If the curve is severe, it could affect breathing. […] Muscle weakness becomes worse very quickly. Your child wont be able to sit or stand without treatment. […] They may have a hard time sucking and swallowing as well. That can lead to malnutrition. Some infants may look as if they are breathing with their bellies. Thats because the muscles that control breathing stop working properly. This can bring frequent breathing problems. Some of these can be serious and life-threatening. […] Children with type 2 SMA can sit without assistance early in their development, but by their teens, they may not be able to do this without help. […] Those with type 2 also wont be able to walk for more than a few feet without help. In most cases, their fingers will start trembling as well.

• #29 Long-term progression in type II spinal muscular atrophy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7011866/

  To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed with the Hammersmith Functional Motor ScaleExpanded. […] We observed an overall progression that was not linear. A piecewise regression analysis showed an improvement of scores in the younger patients with a point of slope change at 5 years of age, a decline between 5 and 13 years of age, and stability/slower decline after that. […] Our results confirm that on the long-term follow-up all patients with type II SMA show a clear and progressive decline. […] The severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression, including onset of scoliosis and need for noninvasive ventilation. […] Patients with type II SMA are often relatively stable over short intervals of time such as 6 or 12 months, but progressive loss of function is observed on long-term follow-up.

• #30 Long-term progression in type II spinal muscular atrophy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7011866/

  The mean age when patients developed a Cobb angle 20 requiring the introduction of thoracic orthosis was 6 years 5 months; the mean age when patients developed a Cobb angle 50, suggesting the need for scoliosis surgery, was 9 years 9 months. […] The loss of 2 points per year between the ages of 5 and 13 years clearly indicates a progressive loss of function. […] Our results confirm that, despite the variability in changes and the possibility of improvement in the first years of life, all patients with type II SMA show a clear and progressive decline on the long-term follow-up, regardless of their scores at baseline. […] After the age of 5 years, stable positive changes were only occasionally observed. […] We also demonstrated that the severity of functional impairment at baseline can help to predict the magnitude of changes over time and, more generally, the onset of scoliosis and need for noninvasive ventilation.

• #31 Spinal Muscular Atrophy | SMA | MedlinePlus

  https://medlineplus.gov/spinalmuscularatrophy.html

  Type ll is a moderate to severe type of SMA. It usually first noticed between 6 and 18 months of age. Most children with this type can sit without support but cannot stand or walk without help. They may also have trouble breathing. They can usually live into adolescence or young adulthood. […] Type lll is also called Kugelberg-Welander disease. It is the mildest type that affects children. The signs of the disease usually show up after age 18 months. Children with this type can walk by themselves but may have trouble running, getting up from a chair, or climbing stairs. They may also have scoliosis (curvature of the spine), contractures, and respiratory infections. With treatment, most children with this type will have a normal lifespan. […] Type IV is rare and often mild. It usually causes symptoms after 21 years of age. The symptoms include mild to moderate leg muscle weakness, tremors, and mild breathing problems. The symptoms slowly get worse over time. People with this type of SMA have a normal lifespan.

• #32 Spinal Muscular Atrophy / SMA (Pediatric) | ColumbiaDoctors

  https://www.columbiadoctors.org/treatments-conditions/spinal-muscular-atrophy-sma-pediatric

  Progression of SMA type II varies. Though overall life expectancy is lowered, many patients live into adolescence or young adulthood. […] Symptoms are: abnormal gait, difficulty running, climbing steps, or rising from a chair, fine tremor of the fingers, higher risk of respiratory infections, joint contractures, the chronic shortening of muscles or tendons around joints caused by abnormal muscle tone and weakness, scoliosis. […] Individuals with SMA type III may have a normal lifespan. […] Symptoms are: chest deformity, drooping of the upper eyelids, respiratory problems, scoliosis, severe contractures, unusually small jaws.

• #33 SMA Progression: What You Need to Know

  https://www.webmd.com/brain/spinal-muscular-atrophy-progression

  As their muscles weaken, respiratory infections can become more likely. […] How much type 3 progresses in children will depend a lot on how much they learn to move. Children with this can learn to walk. But in time, some will start falling down a lot and having a tough time with stairs. Getting up after lying on their back will also be tough. […] Like all kids with SMA, they have a greater chance of respiratory infections as their muscles get weaker. […] Disease progression is slow. People with this type of SMA can walk as adults, but as they age, their muscles will get weaker.

• #34 Spinal Muscle Atrophy Clinical Presentation: History, Physical Examination

  https://emedicine.medscape.com/article/1264401-clinical

  Patients with type II SMA have head control and can sit independently, though about 25% may lose this ability in their mid-teenage years. They have bulbar weakness resulting in difficulty with coughing, swallowing and clearing tracheal secretions. They have weak intercostal muscles, diaphragmatic breathing, and fine tremors with extended fingers or with attempted hand grips. Muscular weakness is greater in the lower extremities than in the upper extremities. Patients develop lower-extremity contractures, and about 50% lose the ability to walk by age 12 years. […] Patients with type III SMA are able to walk independently early in life and maintain their ambulatory capacity into adolescence. They may have difficulty with coughing and swallowing with nocturnal hypoventilation. They develop muscle weakness, aching, and joint overuse symptoms. Weakness may cause foot drop, and patients have limited endurance. A third of the patients become wheelchair-bound as adults (mean age, 40 years).

• #35 Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 3 – SMAUK

  https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type3/

  SMA Type 3 is sometimes further divided into: […] SMA Type 3a symptoms of muscle weakness usually begin between 18 months and 3 years of age. […] SMA Type 3b symptoms usually begin after 3 years, but before adulthood. […] In the natural history of SMA Type 3, each child is affected differently but, in general, children are bright and engaging. However, their SMA causes: muscle weakness on both sides of the body […] muscle weakness closest to the centre of the body as these muscles are more severely affected than muscles furthest away […] legs that are weaker than arms. […] Intellectual and sexual development is not affected, but as children get older, their SMA usually causes them to have: difficulties with standing and walking. This usually happens later for children with SMA Type 3b than for children who develop symptoms at an earlier age.

• #36 Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 3 – SMAUK

  https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type3/

  Fewer people with SMA Type 3 have swallowing or breathing difficulties. Life expectancy is not usually affected. […] How SMA will impact the health and daily life of a treated person living with SMA Type 3 today and how the natural history of their condition may change is very individual. […] Though they can alleviate some symptoms, none of the drug treatments are a cure and for adults and children must be combined with the best supportive care and management of symptoms to ensure the best possible outcomes for each individual.

• #37 Adult-onset spinal muscular atrophy: Symptoms, causes, and more

  https://www.medicalnewstoday.com/articles/adult-onset-spinal-muscular-atrophy

  Adult-onset spinal muscular atrophy (SMA) is a rare neuromuscular disorder that primarily affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. […] Adult-onset SMA usually presents in the second or third decade of life, although symptoms can begin in a persons 30s or 40s. […] Adult-onset SMA (type 4) is the rarest form, accounting for fewer than 5% of all people with SMA. Symptoms usually manifest after age 18 years, with many developing symptoms in the second or third decade of life. […] Typically, the symptoms of adult-onset SMA are generally milder and progress more slowly than those of earlier-onset forms of SMA. […] The symptoms typically include: Muscle weakness: The primary symptom is progressive muscle weakness, which often begins in the proximal muscles (those closer to the center of the body), such as the hips and shoulders.

• #38 Spinal Muscular Atrophy Type 4: Symptoms, Treatment, and Outlook

  https://www.healthline.com/health/spinal-muscular-atrophy/spinal-muscular-atrophy-type-4

  Spinal muscular atrophy (SMA) type 4 is the rarest and mildest form of the condition. Symptoms dont start until adulthood and progress slowly, but experts still recommend early treatment. It doesnt affect your life expectancy. […] Symptoms of SMA type 4 usually start in early adulthood, over the age of 21 years. They can range from mild to moderate, and they may include: muscle weakness, which usually develops after age 35 years, tremors, breathing problems, walking problems, including a waddling gait, muscle twitches, enlarged calves. […] Usually, muscle weakness primarily affects the legs and hips first and then progresses to the shoulders and arms. […] The outlook for people with SMA type 4 is better than with other types of SMA. Most people have a typical life expectancy. However, some people lose the ability to walk and have impairments in everyday activities.

• #39 Spinal muscular atrophy (SMA) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spinal-muscular-atrophy-sma

  The age of onset for SMA type 4 (adult-onset SMA) is 18 to 50 years. Symptoms usually include: mild muscle weakness, tremor, twitching. Life expectancy is normal and the muscles for swallowing and breathing are rarely affected. Only a small number of people eventually require wheelchair assistance. […] Children and adults with SMA are prone to respiratory infections. In the more severe types of SMA, respiratory infections such as pneumonia are often the cause of death. Children with SMA may also have trouble with feeding and require feeding through a tube. Other complications that occur in some types of SMA include contractures (shortening of the muscles, which restrict movement of the joints) and scoliosis (spinal curvature). […] There is currently no specific treatment for SMA. However, research for a treatment is moving forward at a fast pace. Support is available for children with SMA and their families so they can achieve maximum quality of life. For example, as children with SMA type 1 are prone to respiratory infections and pneumonia, treatment focuses on trying to maintain their lung function and health. In contrast, the care of a child or adult with SMA types 3 or 4 will focus on physiotherapy to help maintain muscle strength and mobility.

• #40 Spinal Muscular Atrophy Type 4: Symptoms, Treatment, and Outlook

  https://www.healthline.com/health/spinal-muscular-atrophy/spinal-muscular-atrophy-type-4

  SMA type 4 is a progressive condition. However, its progression tends to be very slow compared with other types of SMA. […] SMA type 4 is the mildest form of SMA and doesnt cause symptoms until adulthood. At that point, it can cause progressive weakness, especially in your legs and hips. […] SMA type 4 doesnt typically affect your life span, but some people lose the ability to walk.

• #41 Adult-onset spinal muscular atrophy: Symptoms, causes, and more

  https://www.medicalnewstoday.com/articles/adult-onset-spinal-muscular-atrophy

  In adult-onset SMA, the disease progresses much more slowly, and many people remain ambulatory and independent for many years. […] Earlier onset forms typically involve more widespread and severe muscle weakness, including respiratory muscles, which can lead to breathing difficulties. Adult-onset SMA usually spares respiratory function until very late in the disease, if at all. […] While there is no cure for adult-onset SMA, several treatment options are available to manage symptoms, slow disease progression, and improve quality of life. […] People with adult-onset SMA generally have a near-normal life expectancy, especially with proper management and treatment. […] Adult-onset SMA (type 4) is a rare genetic disorder that causes gradual muscle weakness and atrophy, typically starting after age 18. […] The condition progresses slowly, and with proper care and support, most people have a near-normal life expectancy.

• #42 Spinal Muscular Atrophy (SMA): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/spinal-muscular-atrophy/

  Symptoms can appear before birth or as late as adulthood. The earlier SMA symptoms appear, the more severe it is. […] In rare cases, the symptoms of SMA can be identified before birth because of reduced fetal movement. More commonly, the condition becomes evident during a child’s first 18 months: Muscle weakness and lack of muscle tone, especially in the thighs, hips, shoulders, and back; Reduced mobility; Inability to reach early developmental milestones, such as sitting up or crawling; Spinal curvature (scoliosis); Diminished reflexes and motor skills; Difficulty swallowing; Difficulty breathing. […] The severity of these symptoms differs significantly based on the age that SMA develops: The youngest babies with SMA may never be able to sit up or crawl, and will experience critical breathing and swallowing problems by the age of 2. Children who are diagnosed between the ages of 6 and 18 months generally have a slower onset of symptoms. They will probably require a wheelchair, but can enjoy a good quality of life before their condition progresses to a dangerous state. Adolescents and adults who are diagnosed with SMA lose muscle strength much more slowly and may never suffer from difficulty breathing or swallowing.

• #43 Spinal muscular atrophy (SMA) – NHS

  https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/

  Spinal muscular atrophy (SMA) is a rare genetic condition that can cause muscle weakness. It gets worse over time, but there are medicines and other treatments to help manage the symptoms. […] The symptoms of spinal muscular atrophy (SMA) affect everyone differently, but can include: muscle weakness such as floppy or weak arms and legs, movement problems such as difficulty sitting up, crawling or walking, problems with breathing or swallowing, twitching or shaking muscles (tremors), bone and joint problems such as an unusually curved spine (scoliosis). […] These symptoms are most often noticed in babies and toddlers, but they can also start in teenagers and adults. […] Although spinal muscular atrophy (SMA) affects everyone differently, some types are considered more severe and can affect how long someone lives.

• #44 Symptoms of Spinal Muscular Atrophy | mySMAteam

  https://www.mysmateam.com/resources/symptoms-of-spinal-muscular-atrophy-sma

  Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes muscle weakness. SMA symptoms vary greatly in their impact on physical function, quality of life, and life expectancy. Type of SMA and age of diagnosis are two of the most important variables that determine SMA symptom severity. […] Depending on how severe the symptoms are, a person with SMA may need help with daily tasks like bathing, dressing, and eating. […] Muscle weakness, also referred to as hypotonia or lack of muscle tone, is the primary symptom of all types of SMA. Muscle weakness in SMA is caused by the loss of nerve cells that transmit signals from the brain and spinal cord to the muscles. […] Muscle weakness generally worsens over time, meaning people may lose physical abilities as SMA progresses.

• #45 Spinal Muscular Atrophy (SMA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/spinal-muscular-atrophy

  SMA symptoms cover a broad spectrum, ranging from mild to severe. […] The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased. […] Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. […] There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn correlates with how many copies of SMN2 genes a person has.

• #46 What is SMA (Spinal Muscular Atrophy) – Liv Hospital

  https://www.livhospital.com/en/sma

  Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease. SMA occurs as a result of damage and eventual loss of motor neurons (nerve cells that control muscle movements) in the body, leading to muscle weakness and atrophy (muscle wasting). This condition severely affects mobility. […] Symptoms of SMA include muscle weakness, muscle atrophy, movement problems, respiratory and swallowing difficulties, and developmental delays. […] The main symptoms of SMA include: […] Muscle Weakness and Atrophy: The most noticeable symptom of SMA is muscle weakness, which typically begins in the central parts of the body (spine, hips) and progresses to the limbs. Muscle weakness eventually leads to muscle atrophy (shrinkage). Infants may have difficulty with head control, sitting, crawling, and walking, showing delays in motor skills. Older children and adults may experience difficulty walking, climbing stairs, and carrying objects.

• #47 Symptoms of Spinal Muscular Atrophy | mySMAteam

  https://www.mysmateam.com/resources/symptoms-of-spinal-muscular-atrophy-sma

  Weakness in the respiratory muscles can be the most dangerous aspect of SMA. […] Breathing problems can also be related to scoliosis (curvature of the spine), which is a very common complication of SMA types 1 to 3. […] Nearly every baby or child with respiratory weakness will require respiratory care to support breathing. […] Weak respiratory muscles can make it difficult for people with SMA to effectively cough and clear secretions or mucus from the lungs. […] Scoliosis impacts nearly all children with SMA types 1 and 2 and about half of people with type 3. […] Joint contractures in the lower limbs are common for people with SMA and occur more often than contractures in the upper limbs. […] Bone fractures occur frequently in SMA types 2 and 3. […] Tremors in the hands are often the first noticeable symptom of SMA type 4 and Kennedy disease (X-linked spinal and bulbar muscular atrophy). […] Depression and mood disorders are common for people with chronic health conditions, and they can affect people with SMA and their families.

• #48 Spinal Muscular Atrophy (SMA) | PM&R KnowledgeNow

  https://now.aapmr.org/spinal-muscular-atrophy-sma/

  In SMA-3 there is often gait difficulty and proximal weakness. […] In SMA-4 there is mild weakness occurring in adulthood. […] Restrictive lung disease (RLD) is most severe in SMA 0 resulting in death shortly after birth, followed by SMA 1, resulting in death within 2 years without ventilator support. […] In SMA 2 restrictive lung disease may be mild, but sleep-disordered breathing conditions can result in increased pulmonary infections with increased morbidity. […] Dysphagia is most common in SMA 1 and is due to bulbar weakness. […] All children with SMA 1 and about 1/3rd of those with SMA-2 will develop respiratory insufficiency or failure during childhood. […] The clinical management of SMA depends upon the severity of weakness and the degree of respiratory involvement. […] Dysphagia due to bulbar dysfunction can occur. Possible options for management include modification of diet consistencies to compensate for poor swallowing and protect against aspiration.

• #49 Symptoms of Spinal Muscular Atrophy | mySMAteam

  https://www.mysmateam.com/resources/symptoms-of-spinal-muscular-atrophy-sma

  Muscle weakness is most profound in type 0 and type 1 (Werdnig-Hoffmann disease), the most severe forms of SMA. […] In some types of SMA, muscle weakness comes with hyporeflexia, or severely reduced muscle reflexes. […] Depending on the type and severity of SMA, a child or adult may have mobility limitations ranging from the inability to lift their head to slight difficulty walking. […] Problems with sucking and swallowing are caused by weak muscles in the throat and mouth. […] Infants and children with SMA types 0 and 1 are never able to sit up unsupported. […] Children with SMA type 2 rarely develop the ability to stand, whereas those with type 3 (Kugelberg-Welander disease) will be able to stand. […] Babies and children with types 0 to 2 will never develop the ability to walk.

• #50 Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 3 – SMAUK

  https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type3/

  difficulties keeping up with daily activities. For example, if they have been able to walk or climb stairs, they may lose this ability. Some children may fall more easily because of their muscle weakness. If they are sitting on the floor, they may need help to get up. […] muscles supporting the spinal column that are weakened. This means that some children develop a sideways curvature of their spine (scoliosis). […] a reduced ability to move due to some joints becoming tight (contractures), restricting their range of movement. […] a tendency to become weaker after infections and at times of major growth, such as puberty. […] Some children, young people and adults will need help with daily tasks like washing, dressing and undressing. Some may need to use a manual or powered wheelchair for independent mobility.

• #51 What is SMA (Spinal Muscular Atrophy) – Liv Hospital

  https://www.livhospital.com/en/sma

  Movement Problems: Muscle weakness and atrophy can affect coordination and balance. Individuals with SMA may experience tremors, balance issues, and frequent falls. In advanced stages, mobility may be severely limited, and the use of a wheelchair may be necessary. […] Respiratory Problems: SMA can also affect the respiratory muscles. Infants and young children may experience difficulty breathing, frequent infections, and trouble coughing. In later stages, respiratory failure can develop, requiring ventilator support. […] Swallowing and Feeding Problems: SMA can affect the muscles used for swallowing. Infants may have difficulty sucking and swallowing, leading to feeding problems. Older children and adults may have difficulty swallowing, leading to prolonged meal times and inadequate nutrition. […] Other Symptoms: Scoliosis (spinal curvature), Joint contractures (joint stiffness), Reduced or absent reflexes, Fatigue.

• #52 Spinal muscular atrophy (SMA): Types, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/192245

  The symptoms of SMA depend on its type and severity, as well as the age at which it develops. […] Common symptoms include muscle weakness and twitching, difficulty breathing and swallowing, changes in the shape of the limbs, spine, and chest due to muscle weakness, difficulty standing, walking, and possibly sitting. […] In all of its forms, the main features of SMA are muscle weakness and muscle wasting. These occur because the nerves that control movement, called motor neurons, are unable to give the muscles the signal to contract. The weakness tends to affect the muscles that are closer to the center of the body. […] SMA is a degenerative disease, and the symptoms tend to worsen over time.

• #52 Spinal muscular atrophy (SMA): Types, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/192245

  Spinal muscular atrophy (SMA) causes muscle wasting and weakness. It can be difficult for a person with SMA to stand, walk, control their head movements, and even, in some cases, breathe and swallow. […] Symptoms include muscle weakness and twitching, a lack of ability to move the limbs, difficulty feeding, and, in time, a curvature of the spine. With newer treatments, such as disease modifying therapies (DMTs), some children with SMA type 1 can now learn to sit or walk. […] Symptoms of SMA type 2 usually appear at the age of 6-18 months. The infant may learn to sit, but they will never be able to stand or walk. In some cases, without treatment, the individual may lose their ability to sit. […] Most people will continue to be able to walk, but they may have an unusual gait and experience difficulty running, climbing steps, or rising from a chair. There may also be a slight tremor of the fingers. Complications include a higher risk of respiratory infections.

• #53 Spinal muscular atrophy: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/

  Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. It is a severe form of the 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-shaped chest that prevents the 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 (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position. However, as the 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 (tremors) in their fingers, a spine that curves side-to-side (scoliosis), 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.

• #54 Spinal muscular atrophy – UpToDate

  https://www.uptodate.com/contents/spinal-muscular-atrophy

  Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. […] Disease severity in SMA generally correlates inversely with SMN2 copy number, which varies from 0 to 8 in the normal population, and to a lesser degree with the level of SMN protein. […] The presence of four or more copies of SMN2 is associated with a milder phenotype. […] SMA is the most common monogenic cause of infant mortality.

• #55 Spinal muscular atrophy (SMA) – NHS

  https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/

  SMA is usually more severe the earlier symptoms begin. However, the outlook for each type depends on a person’s symptoms and how well treatment works. […] There is currently no cure for spinal muscular atrophy (SMA), but there are treatments and support available to help people with SMA have the best possible quality of life. […] Treatment and support is also available for the symptoms of SMA. Every person’s needs will be different depending on their symptoms. […] People with SMA are also usually advised to have the flu vaccine and pneumococcal vaccine.

• #56 Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 2 – SMAUK

  https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type2/

  The natural history can also weaken chewing and swallowing muscles. For some this means their tongue and shoulder muscles may twitch and they may have a slight tremor in their hands. […] Major growth spurts, such as puberty, often create greater demands on weak muscles. SMA Type 2 can also mean that children and adults may become weaker after infections. […] Most children, young people and adults living with SMA Type 2 need powered wheelchairs to maintain independent mobility, and help with daily tasks like washing, getting onto and off the toilet, as well as dressing and undressing. […] Serious complications (such as severe respiratory infections) are associated with reduced life expectancy, but improvements in healthcare standards mean that the majority of people live long lives.

• #57 Early Signs and Symptoms of SMA  | CheckRare

  https://checkrare.com/early-signs-and-symptoms-of-sma/

  SMA is a progressive disorder. Therefore, the sooner a person with SMA can be diagnosed and be given proper treatment, the better the chances they have of maintaining a certain level of activity and quality of life. […] Once a person has been diagnosed with SMA often by newborn screening there are several approved treatments available to delay (nusinersen, risdiplam) or possibly stop (onasemnogene abeparvovec) disease progression.

• #58 Spinal Muscular Atrophy – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/spinal-muscular-atrophy/

  When a baby is born floppy and very weak, doctors may suspect SMA. They may send blood for genetic testing. In most states in the US, SMA is part of newborn screening. If this screening shows that the baby is missing both SMN1 genes, the number of SMN2 genes is checked. Babies with 2, 3, or even 4 copies of SMN2 genes should receive SMA drugs urgently, before they develop symptoms of disease. […] Treatment effects can differ from patient to patient. Treatment is not curative. There is likely to be residual weakness, which can require physical and occupational therapy, mobility aids and wheelchairs. However, if a child is treated after a newborn screening, before symptoms occur, the disease may be prevented. […] Since these new treatments were FDA-approved after 2016, the prognosis for children with SMA is promising. This is particularly true for those treated earlier in life, before much motor neuron loss and weakness has occurred. Those diagnosed through newborn screening will have access to these early treatments.

• #59 Spinal Muscular Atrophy – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/spinal-muscular-atrophy/

  Children who are treated can expect to have a longer lifespan and achieve motor milestones never before achieved for those with SMA. With treatment, some Type 1 patients can sit and sometimes even stand or walk. Some Type 2 patients can stand and walk. This is unprecedented in this disease. In babies treated very early before any symptoms arise, SMA can be essentially prevented.

• #60 Spinal Muscular Atrophy | Pediatric Neurology | University Hospitals | Cleveland, OH | University Hospitals

  https://www.uhhospitals.org/rainbow/services/pediatric-neurology/conditions-and-treatments/spinal-muscular-atrophy

  Historically, SMA has been considered virtually untreatable with medical management used primarily to ensure adequate nutrition and avoid or delay respiratory failure. […] If given early in the course of the disease, this treatment can potentially halt the progression of this disease and in some cases, when given before symptoms develop, (pre-symptomatically) can result in normal motor milestones for the child. […] Improvements in motor milestones such as head control, sitting, rolling, crawling, standing and walking have been reported. […] In clinical trials for SMA type 1, researchers described improvements in respiratory and motor function, which lead to fewer and less lengthy hospitalizations compared to what patients traditionally face. […] Without treatment infants do not achieve these milestones in the natural history of the disease.

• #61 Spinal Muscular Atrophy (SMA) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/spinal-muscular-atrophy/

  With type 1 SMA, your child may breathe from their stomach rather than their chest. As your childs muscles get weaker, they may not breathe well on their own and may need equipment to help. […] Children with milder types of SMA may have full muscle strength as babies or children. But without treatment they get weaker over time. As teens or adults, some may lose their ability to walk or may need a device to help them breathe while sleeping. […] Over time, other health problems linked with muscle weakness may start. These include curved spine (scoliosis or kyphosis), abnormal hip joints and brittle bones that break easily. […] SMA does not affect your childs thinking or emotions.

• #62 Spinal Muscular Atrophy (SMA) | AUSNMD

  https://ausnmd.org/patients/spinal-muscular-atrophy-sma/

  Early signs of SMA include muscle weakness, poor muscle tone and floppiness, with the legs usually weaker than arms. Babies who are affected may have feeding or breathing difficulties and a weak cry. […] SMA symptoms are progressive, causing increasing weakness in the muscles of the limbs and chest, making breathing progressively more difficult. Weakness of the breathing muscles is the most serious complication of all forms of SMA, especially in children. […] It is important to note that SMA does not affect all parts of the body. Intelligence is unaffected and children with SMA attend mainstream schools with physical assistance.

• #63 Spinal Muscular Atrophy Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/1181436-clinical

  Patients with spinal muscular atrophy present with weakness and muscle wasting in the limbs, respiratory, and bulbar or brainstem muscles. They have no evidence of cerebral or other CNS dysfunction. Patients with spinal muscular atrophy often have above-average intelligence quotients (IQs) and demonstrate high degrees of intelligence. […] Patients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.

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