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]

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]

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]

• Recurrent Upper Respiratory Infection

  Past medical history significant for recurrent upper respiratory infections occasionally requiring hospitalization. [gait.aidi.udel.edu]

• Decreased Breath Sounds

  At this time she looked alert, having sever ehypotonia, frog like position, seesaw breathing, with decreased breath sounds on the right side of the chest. The case was admitted to PICU and connected to mechanical ventilation. [raredisorders.imedpub.com]

• 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]

• Ankylosis

  Airway management was further complicated by limited mouth opening and cervical spine ankylosis. Copyright 2017 Elsevier Ltd. All rights reserved. KEYWORDS: Airway; Dexmedetomidine; Spinal muscular atrophy [ncbi.nlm.nih.gov]

• Lordosis

  His lumbar lordosis associated with anterior tilted pelvis and his problems with head balance due to weak neck musculature caused compensatory behavior like a retracted neck and mandible. [ncbi.nlm.nih.gov]

• Long Legs

  Managed with physical therapy and inpatient rehabilitation consisting of intensive physical, occupational and aquatic therapy and the use of long leg braces at age of 2. [gait.aidi.udel.edu]

• Type A Personality

  SMA is a genetic condition that can affect children or adults, depending on the type. A person’s outlook will depend on the severity of the symptoms. [medicalnewstoday.com]

• Hand Tremor

  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]

  Type 2 diabetes mellitus, hand tremor, and infertility can also occur. Bulbar involvement predisposes the person with spinal muscular atrophy to recurrent aspiration pneumonia, due to weakening of the muscles necessary for efficient swallowing. [encyclopedia.com]

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

• Gowers Sign

  sign secondary to proximal muscle weakness with pseudohypertrophy of claves CLINICAL FEATURES: Symmetric limb and trunk weakness with muscle atrophy greater in the lower extremities than the upper extremities; and greater atrophy in the proximal muscle [gait.aidi.udel.edu]

• Neonatal Hypotonia

  Sometimes onset is prenatal and presents with neonatal hypotonia and contractures. Never acquire ability to sit without support. usually do not survive beyond the first 2 years of life. Type II : Intermediate type. Onset between 7-18 months of age. [genetics4medics.com]

Our result demonstrates that administration of BTA is one of the effective treatment choices for dysphagia in SMA patients. [ncbi.nlm.nih.gov]

“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]

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]

[…] to treatment during the trial period. [cochrane.org]

The first two years of treatment with Spinraza cost around 50% of one Zolgensma infusion, but Spinraza treatments must continue for life at a cost of 375,000 each year. [statnews.com]

Prognosis Life expectancy for patients with SMA2 is variable. 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]

[…] the SMN2 gene The SMN2 gene copy number is related to, but not predictive of, disease severity, and care decisions should not be made based on copy number alone.11,12 In any case of spinal muscular atrophy, SMN2 gene copy number is less predictive of prognosis [togetherinsma-hcp.com]

SMA in infancy and early childhood is associated with worse outcomes, while patients who develop symptoms later in childhood or in adolescence usually have a more positive prognosis. [hopkinsmedicine.org]

If you or your child has been diagnosed with non-chromosome 5-related SMA, talk with your doctor and a genetic counselor to find out more about the genetics and prognosis for the particular type of SMA involved. [mda.org]

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

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]

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]

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]

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]

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

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]

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]

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]

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]

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

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]

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]

Long posterior fusion was the best way to prevent secondary curves above and below the fusion 2. Anterior arthrodesis alone was not sufficient to maintain spinal stability 3. [gait.aidi.udel.edu]