The incidence is about 60% to present with the most severe form, which presents before 6 months of age, in what we call in the natural history type 1 SMA. But there are milder forms that could present at later times of life as well. [ajmc.com]

Severity of SMA is related to the number of SMN2 copies present. SMA type 1 patients usually have 2 copies of SMN2, while type IV patients usually have 3-4 copies. Inheritance : Autosomal recessive. [genetics4medics.com]

At birth, patients with SMA type 0 present with severe weakness and hypotonia. [mda.org]

In order to do so, the data of 141 patients presenting themselves with respiratory distress and the phenotype of a spinal muscular weakness was analyzed by hierarchical cluster analysis. [refubium.fu-berlin.de]

However, at present, management remains symptomatic, involving a multidisciplinary approach and aiming to improve quality of life. Respiratory support is necessary. Physiotherapy and occupational therapy are recommended. [orpha.net]

• Weakness

  These children present with significant weakness and generalized hypotonia which manifests in difficulty moving, swallowing, feeding and breathing. The neck, shoulder girdle, chest and pelvis demonstrate the greatest weakness. [columbiasma.org]

  They include severe weakness or 'floppiness', poor head control, weak cry and cough, and difficulty with swallowing and feeding. SMA type 2: This develops within the first three years of life. [rch.org.au]

  […] and symptoms. 3 Weakness is usually symmetrical Weakness is more proximal than distal Sensation is preserved Tendon reflexes are absent or diminished Weakness is greater in the legs than the arms Severity of weakness generally correlates with the age [togetherinsma-hcp.com]

  They can all cause weakness and difficulty moving, but how bad these problems are varies. Intelligence and learning ability aren't affected by any type of SMA. [nhs.uk]

  At birth, patients with SMA type 0 present with severe weakness and hypotonia. [mda.org]

• Feeding Difficulties

  Poor sucking ability and reduced swallowing are frequent, leading to feeding difficulties. Deep tendon reflexes are absent. Respiratory failure is common. [orpha.net]

  Symptoms are typically severe and may include hypotonia or diminished muscle tone, muscle weakness, respiratory problems, pneumonia, and swallowing and feeding difficulties. [ucsfbenioffchildrens.org]

  feeding Breathing difficulty can rapidly become an emergency condition. [medlineplus.gov]

  In the past, the treatment of SMA has been based on management of the complications of weakness, feeding problems and breathing difficulties. [rch.org.au]

• Unable to Stand

  Generally, affected children have difficulty sitting independently and are unable to stand and walk by the age of one year. The muscle weakness (almost always symmetrical) predominantly affects the legs and trunk muscles. [orpha.net]

  Children are unable to stand without support and may be described as ‘sitters’. Their weak respiratory muscles can make it difficult for them to cough effectively, which can make them more vulnerable to chest (respiratory) infections. [smauk.org.uk]

  These children may grow to sit unassisted but are often unable to stand or walk. [neurologytimes.com]

• Surgical Procedure

  OBJECTIVE: To describe the early and late postoperative data from SMA patients with surgical procedure. [atrofiaespinhal.org]

• Respiratory Insufficiency

  Abstract Respiratory insufficiency is the primary cause of morbidity and mortality among patients with spinal muscular atrophy type 2. [ncbi.nlm.nih.gov]

  With adapted treatment, particularly for respiratory insufficiency, the majority of patients survive up to adulthood, although they will never be able to walk independently. [orpha.net]

  Neurological disorder (five types) that leads to severe amyotrophy with respiratory insufficiency has been described. Clinical evolution according to the type involved. [accessanesthesiology.mhmedical.com]

  Death may occur due to respiratory insufficiency and infections. Last updated: 7/7/2009 [rarediseases.info.nih.gov]

  Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

• Dysphagia

  We report a 21-year-old man with SMA type 2 who has been suffering from severe dysphagia. The findings at video-fluoroscopic swallow study (VSS) were consistent with a diagnosis of cricopharyngeal dysphagia. [ncbi.nlm.nih.gov]

  […] associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia [orphananesthesia.eu]

  Children with type I SMA have early dysphagia and early placement of G-tube with Nissen fundoplication is often necessary to prevent aspiration and pneumonia. [medicalhomeportal.org]

• Vomiting

  The most common AEs were upper respiratory tract infection (31.7%), nasopharyngitis (25.8%), pyrexia (20.8%), headache (20%), diarrhea (16.7%), vomiting (14.2%), and cough (14.2%). [neurologylive.com]

  […] therapy medication used to treat spinal muscular atrophy (SMA).[2] It is used with corticosteroids as a one-time injection into a vein.[2] It was approved in the United States in 2019 for children less than two years old.[3][2] Common side effects include vomiting [en.wikipedia.org]

  There is a risk of adverse reactions occurring as part of the lumbar puncture procedure (e.g. headache, backpain, vomiting). The timing of SPINRAZA availability in the EU will vary by country, per local reimbursement and access pathways. [businesswire.com]

  46%), nasopharyngitis (n = 12; 43%), upper respiratory tract infection (n = 12; 43%), puncture site pain (n = 11; 39%), back pain (n = 9; 32%), scoliosis (n = 8; 29%), pyrexia (n = 7; 25%), joint contracture (n = 6; 21%), rhinorrhea (n = 6; 21%), and vomiting [n.neurology.org]

• Nausea

  Since motor neurons do not divide, it is expected that the transgene may have long-term stability.[9][failed verification] Adverse effects[edit] Common adverse reactions may include nausea and increased liver enzymes.[2] Serious adverse reactions may [en.wikipedia.org]

• Fasciculation of the Tongue

  […] of the tongue Weakness and hypotonia in the limbs and trunk Intercostal muscle weakness (note, the diaphragm is initially spared) Paradoxical breathing Bell-shaped trunk with chest wall collapse and abdominal protrusion To learn how different aspects [togetherinsma-hcp.com]

• Muscular Atrophy

  短句来源 更多 Genetic diagnosis and gene sequencing of spinal muscular atrophy 脊髓性肌萎缩症基因诊断 短句来源 Objective:To investigate methods for prenatal diagnosis of spinal muscular atrophy. 目的:探讨脊髓性肌萎缩症(SMA)产前基因诊断的方法。 [dict.cnki.net]

  N...Karaduman A 31111020 2019 35 Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. 61 Smith G...Albayram MS 30340076 2019 36 [Respiratory care in spinal muscular atrophy in the new therapeutic [malacards.org]

  atrophy SMN2 gene copy numbers are variable in individuals with spinal muscular atrophy. [togetherinsma-hcp.com]

  Spinal muscular atrophy diagnostics. J Child Neurol, 22(8):952-956. Prior (2008). Carrier screening for spinal muscular atrophy. Genet Med, 10:840-842. Ramser et al. (2008). [nxgenmdx.com]

  Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995 ; 57 : 805 –808. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008 ; 371 : 2120 –2133. [cambridge.org]

• Muscle Weakness

  Most of these patients develop foot deformities, scoliosis, and respiratory muscle weakness. [mda.org]

  […] have weak muscles, minimal muscle tone, and feeding and breathing problems. [medicalnewstoday.com]

  The most common symptoms include clumsiness, trouble walking and climbing steps, fine tremor, and muscle weakness. Children with type 3 often have trouble getting up from a sitting position. [nm.org]

  Children with SMA may have muscle weakness and poor muscle tone, and may not reach milestones such as sitting or crawling. [rch.org.au]

  Weakness and atrophy in the lower extremities are usually followed by problems with the pectoral girdle, facial muscles, distal limb, and bulbar muscles. Muscle cramps on exertion often precede the weakness by several years. [encyclopedia.com]

• Myopathy

  myotonic syndromes, metabolic myopathies and inflammatory... [journals.elsevier.com]

  Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore [orphananesthesia.eu]

  Differential diagnosis Differential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms). [orpha.net]

  Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.ro]

  […] electrolyte imbalance (e.g. excess magnesium), drug induced (e.g. the symptoms of benzodiazepine intoxication include confusion, slurred speech, ataxia, drowsiness, dyspnea, and hyporeflexia).[2] Diseases associated with hyporeflexia include: Centronuclear myopathy [en.wikipedia.org]

• Tremor

  Tremor of hand Tremor of hands tremors in hands [ more ] 0002378 Muscle weakness Muscular weakness 0001324 Recurrent respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility [rarediseases.info.nih.gov]

  Fine tremors of the face are present in over 90% of patients. Type 2 diabetes mellitus, hand tremor, and infertility can also occur. [encyclopedia.com]

  Symptoms of adult-onset SMA are usually mild to moderate and include muscle weakness, tremor and twitching. How is spinal muscular atrophy diagnosed? To make a diagnosis of SMA, symptoms need to be present. [genome.gov]

  The most common symptoms include clumsiness, trouble walking and climbing steps, fine tremor, and muscle weakness. Children with type 3 often have trouble getting up from a sitting position. [nm.org]

  A fine tremor may also be seen on outstretched fingers. Mobility is usually enhanced by using a wheelchair. [columbiasma.org]

• Hand Tremor

  Tremor of hand Tremor of hands tremors in hands [ more ] 0002378 Muscle weakness Muscular weakness 0001324 Recurrent respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility [rarediseases.info.nih.gov]

  They have delayed motor (physical) milestones, poor weight gain, weak cough, hand tremors, contractures (fixed deformities of joints) and scoliosis (curved spine). [rch.org.au]

  Tongue movements and hand tremors may be seen, but are less apparent than in Type I SMA. Contractures (tightening) of joints and scoliosis are common. [choosept.com]

  Fine tremors of the face are present in over 90% of patients. Type 2 diabetes mellitus, hand tremor, and infertility can also occur. [encyclopedia.com]

  Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility. [patient.info]

• Absent Deep Tendon Reflexes

  Other symptoms may include: Decreased or absent deep tendon reflexes, such as the relfex that occurs when you tap on your knee. [ucsfbenioffchildrens.org]

  Absent deep tendon reflexes, hypotonia, and weakness, but normal intelligence and no sensory loss are observed. Restricted joint mobility and kyphoscoliosis are also frequent. Death before age of 2 years old is common but does not always occur. [accessanesthesiology.mhmedical.com]

  Signs of motor neuron disease such as muscle weakness, muscle atrophy, fasciculations, and reduced or absent deep tendon reflexes can be seen. [medlink.com]

  These patients had symmetrical or asymmetrical predominantly proximal muscle weakness and wasting and particularly affecting the lower limbs with tremor of the hands and generalized markedly reduced or absent deep tendon reflexes. [neurologyindia.com]

• Flaccid Paralysis

  These patients present by hypotonia, symmetrical flaccid paralysis, no head control and poor suck and swallow, with increasing swallowing and feeding difficulty over time due to involvement of bulbar motoneurons. They present before 6 months of age. [raredisorders.imedpub.com]

• Paresis

  Neurosciences, Neuroscience Faculty Block, Hosur Road, Bangalore 560 029 India Source of Support: None, Conflict of Interest: None DOI: 10.4103/0028-3886.43454 Background: Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis [neurologyindia.com]

“Critically, the Working Group notes that the loss of even a small number of motor neurons is unacceptable when effective treatment is available, as this loss cannot be reversed after onset but can be prevented with earlier treatment.” [neurologylive.com]

However, response to treatment does vary. [rarediseases.info.nih.gov]

Treatment The only treatment approved by the U.S. Food and Drug Administration for SMA is Spinraza (nusinersen). However, there are other treatments available to ease symptoms and improve quality of life. [smanewstoday.com]

Management and treatment Clinical trials are ongoing to identify potential drug treatments for SMA2, mainly targeted towards increasing the levels of the full length SMN protein. [orpha.net]

AVXS-101) which hold promise in improving the quality of life and prognosis of these patients 7-9. [radiopaedia.org]

Prognosis The prognosis depends on the severity of the disease, which generally correlates with the age of onset: earlier-onset forms are generally associated with a poor prognosis, whereas life expectancy may be close to normal in later-onset forms. [rarediseases.info.nih.gov]

Prognosis The prognosis is generally poor with most patients dying within the first two years of life due to respiratory failure. However, in some cases, manifestations are stable or even regress, and patients may live longer. [orpha.net]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

Etiology Similarly to the other forms of SMA, SMA2 is primarily caused by deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein. [orpha.net]

The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by deleterious SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogeneous and largely remain to be elucidated. [uniprot.org]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Summary Epidemiology Prevalence is estimated at around 1/70,000. The disease is slightly more frequent in males than in females. Clinical description Disease onset occurs between the ages of 6 and 18 months (usually around 15 months). [orpha.net]

Identification of the molecular pathophysiology of lower motor neuron syndromes can be expected to aid in the development of therapy for these disabling disorders. [dpag.ox.ac.uk]

Farrar MA, Vucic S, Johnston HM, duSart D, Kiernan MC (2013) Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatrics 162: 155-159. [smauk.org.uk]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr. 2013;162:155-9. https://doi.org/10.1016/j.jpeds.2012.05.067 Lin CW, Kalb SJ, Yeh WS. [revistabiomedica.org]

Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. [emedicine.medscape.com]

This article discusses the primary respiratory complications of spinal muscular atrophy type 2 and the role of respiratory interventions to promote growth and development, improve cough efficacy, reverse nocturnal hypoventilation, and prevent and treat [ncbi.nlm.nih.gov]

Scientists hope to characterize the genes, study gene function and disease course, and find ways to prevent, treat, and, ultimately, cure these diseases. [christopherreeve.org]

The individual may have scoliosis or contractures, a shortening of the muscles or tendons, which can prevent the joints from moving freely. [medicalnewstoday.com]

Standing programs for children who can't walk are used to maintain muscle flexibility and length, prevent contractures, promote musculoskeletal development, and prevent bone-mineral density loss. [choosept.com]

Those affected by the disorder can work with their health care providers to manage SMA symptoms and prevent complications, which can contribute to quality of life. [hopkinsmedicine.org]