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]

Also known as Werdnig-Hoffmann Disease -Weakness present at birth or prior to 4 months of age -Cranial nerve involvement may or may not be seen -Respiratory problems often with accessory muscles present for breathing -Do not transition away from belly [quizlet.com]

• Unable to Stand

  (~45% of cases) 0-6 months Never sit, weak suck, poor feeding, weak cry, progressive severe hypotonia and weakness affecting limbs and respiratory muscles < 2 years without ventilator support SMA-2 (~20% of cases) 6-18 months Can sit unassisted, but unable [now.aapmr.org]

• Recurrent Infection

  Respiratory difficulties are exacerbated with undeveloped chest, lungs and recurrent infections. [morphopedics.wikidot.com]

• Wheelchair Bound

  They typically have a normal lifespan; however, as with all forms of SMA, weakness gets progressively worse and they usually will be wheelchair bound. Type 4 SMA is an adult SMA, with symptoms beginning around age 35. [smasupport.com]

• Dysphagia

  […] fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia [explainmedicine.com]

  Dysphagia is most common in SMA 1 and is due to bulbar weakness. 2. [now.aapmr.org]

  These babies are able to achieve head control, that over time will regress. (5) Type I babies without respiratory therapy die from respiratory therapy in two years. (7) Decrease in respiratory abilities is due to a development of bulbar weakness and dysphagia [morphopedics.wikidot.com]

  […] 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]

• Muscle Weakness

  Bulbar and limb muscles get involved with the progression of disease.[5]. Congenital muscular dystrophy It is a clinically and genetically heterogeneous group of inherited muscle disorders. They may present with muscle weakness in early infancy. [explainmedicine.com]

  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]

  Without these important parts of the brain and spinal cord, an affected child loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). Muscle weakness in SMA2 is first noticed between the ages of 6 and 12 months. [diseaseinfosearch.org]

  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. [ghr.nlm.nih.gov]

  […] muscular atrophy Initial symptoms may include: Tremor of the hands Muscle cramps when performing physical activities Muscle twitches and weakness of limb muscles As the condition progresses: Weakness of the face and tongue muscles which may cause difficulties [thehumanthebody.com]

• Hip Dislocation

  Operative treat associated orthopaedic disorders (details below) hip dislocation scoliosis lower extremity contractures Hip Dislocation Overview hip subluxation and dislocation occur in 62% with type II SMA, and less frequently in Type III. [orthobullets.com]

  dislocations -Progression of scoliotic curve -For those who cannot achieve ambulation, power mobility should be promoted -Power wheelchairs vs scooters -Monitor closely for alignment -Joystick modifications -Contracture development 2* prolonged sitting [quizlet.com]

  Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23(1):10-4. Laufersweiler-Plass C, Rudnik-Schöneborn S, Zerres K, Backes M, Lehmkuhl G, von Gontard A. [rarediseases.org]

  It should be noted that these children are also prone in intermittent spontaneous hip dislocation. (1) Functional outcome measurement tools that are often used for Type III spinal muscular atrophy is the Gross Motor Functions for ambulating patients. [morphopedics.wikidot.com]

• Myalgia

  Neurontin: peripheral edema, dizziness, myalgias, ataxia, mood swings, fatigue Examination This section is intended to capture the most commonly used assessment tools for this case type/diagnosis. [axcor.com]

• Muscle Hypotonia

  They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor sucking ability, reduced swallowing, and respiratory failure. [ispub.com]

• Areflexia

  Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness. [amboss.com]

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]

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

SPINRAZA was well-tolerated with no new safety concerns identified after up to nearly 4 years of treatment. [news.cision.com]

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]

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]