Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Some individuals may present with congenital respiratory failure with congenital contractures whereas the others may present with respiratory distress after age six months without congenital contractures. [explainmedicine.com]

Classification Type Name Presentation Prognosis Type I Acute Werdnig-Hoffman disease • Present at < 6 months • Absent DTR • Tongue fasciculations Poor, usually die by 2 yrs. [orthobullets.com]

Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. [athenadiagnostics.com]

[…] distal hereditary motor neuropathy type 3 Prevalence: Inheritance: X-linked recessive Age of onset: Adolescent, Adult, Infancy, Childhood ICD-10: G12.2 OMIM: 300489 UMLS: C1845359 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

EDX remains important for diagnostic workup in atypical cases and non-5q-related SMA to demonstrate the neurogenic etiology of the illness. [now.aapmr.org]

- Assessment tools for fatigue in patients with serious illness - Cancer-related fatigue initial workup - Common causes nausea and vomiting in palliative care pts - Bowel Function Index - Constipation assessment scale - Physical findings in edema - [axcor.com]

Food and Drug Administration (FDA) approved Spinraza (nusinersen) for the treatment of SMA. [mda.org]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

Nonoperative Nusinersen has been FDA approved for treatment of SMA. [orthobullets.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment options, such as braces to help support the back or legs, are available to help manage the symptoms of SMA2. Talk to a doctor about all treatment options. [diseaseinfosearch.org]

Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood. [encyclopedia.com]

The older the age of onset, the better the prognosis! [amboss.com]

If you or your child has been told the diagnosis is SMA but it’s not the chromosome 5-related type, talk with your doctor and perhaps a genetic counselor to find out more about the genetics and prognosis for the particular SMA involved. [mda.org]

At some point, these babies will need noninvasive respiratory support. (5) Subgroup III Out of the three subgroups for Type I SMA, these subgroup has the best prognosis. [morphopedics.wikidot.com]

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 diversity of etiological factors makes it prudent to have a high index of suspicion for evaluation of appropriate etiology as discussed in this case series. Early identification will avoid prolonged ventilation and allows appropriate counseling. [annalsofian.org]

Motor neurone disease It is a progressive neurodegenerative disease of unknown etiology. [explainmedicine.com]

Etiology SMA is categorized by its mode of inheritance and the pattern of weakness that phenotypically manifests (i.e. proximal vs. distal weakness). [now.aapmr.org]

Evidence for subtelomeric exchange of 3.3 kb tandemly repeatedy units between chromosome 4q35 and 10q26: implication for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996; 5:1997–2003. CrossRef PubMed Google Scholar 30. [link.springer.com]

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

No clinical epidemiological investigations of spinal muscular atrophy (SMA) have been carried out in Japan. [ci.nii.ac.jp]

SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence is between 1 in 6,000 and 1 in 10,000 live births and the carrier frequency [patient.info]

This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive [emedicine.medscape.com]

Epidemiology including risk factors and primary prevention Spinal muscular atrophy disorders affects 1/6000 to 1/10,000 infants, with a carrier frequency in the general population of 1/40 5-7. [now.aapmr.org]

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 Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers. [patient.info]

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]

[…] affect mRNA processing. [1] The cellular mechanisms of the mutation, as well as the protein mechanisms disrupted by the mutation, are unknown. [3] IGHMBP2 mutations are usually random mutations which are normally not passed down through generations. [1] Pathophysiology [en.wikipedia.org]

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry 1986; 49:1011–1018. CrossRef PubMed Google Scholar 58. [link.springer.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. [moveforwardpt.com]

Improve Your Chances by Hiring a Disability Attorney If you've been denied benefits for muscular atrophy that prevents you from working, an experienced disability attorney can help you navigate the confusing disability appeals process. [disabilitysecrets.com]

Orthopedic surgical interventions such as tendon transfer or spinal surgery can prevent disability in patients with expected prolonged survival. [encyclopedia.com]

Two major decisions must be made with Type I children...whether or not to insert a feeding tube to prevent pneumonia and prevent starvation when they have lost their ability to suck or swallow; and whether or not to put them on a ventilator or other breathing [smasupport.com]

Centers for Disease Control and Prevention. Developmental milestones. Available at: http://www.cdc.gov/ncbddd/actearly/milestones/. Updated January 21, 2016. Accessed April 27, 2016. 14. [care.togetherinsma.fr]