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]

To make a diagnosis of SMA, symptoms need to be present. When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and VAPB genes cause SMA. [genome.gov]

Diagnosis Diagnosis is based on the clinical presentation, family history, and genetic testing. [encyclopedia.com]

[…] contractures Congenital nonprogressive spinal muscular atrophy Prevalence: - Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: G12.1 OMIM: 600175 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

The history of early deaths in the family was present in 19 (37%) of the 52 children with the data available. [neurologyindia.com]

• Lymphedema

  MT-TF, MT-ND5, MT-TK, MITO Melnick-Needles-Syndrom FLNA, Merosin-deficient CMD LAMA2 Metachromatische Leukodystrophie ARSA Metaphyseal chondrodysplasia, Schmid type COL10A1 Microcephaly ASPM, SLC25A19, CEP152 MIDAS-Syndrom HCCS, HCCS Milroy Disease/Lymphedema-Dystichiasis [meduniwien.ac.at]

• Torticollis

  […] encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease : Parkinsonism ( PD, Postencephalitic, NMS ) · PKAN · Tauopathy ( PSP ) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia : Dystonia ( Spasmodic torticollis [thefullwiki.org]

  […] degeneration** () Other specified degenerative diseases of basal ganglia** () Degenerative disease of basal ganglia, unspecified* () Dystonia** () Drug-induced dystonia** () Idiopathic familial dystonia** () Idiopathic nonfamilial dystonia** () Spasmodic torticollis [mymemory.translated.net]

• Lordosis

  Examination shows pes cavus and a lumbar lordosis; he has wasting and weakness of the intrinsic hand muscles and his legs below the knees, absent ankle jerks and normal sensation ( Fig. 3 ). [academic.oup.com]

• Reduced Fetal Movement

  There may be a history of reduced fetal movements in utero. Mortality/morbidity : median survival is 7 months - 95% die before 18 months. SMA type II Age of onset : 6-18 months. Features : developmental motor delay (delay in sitting, standing). [patient.info]

  fetal movements between 30-36 weeks of pregnancy with a very short life expectancy. [8] The clinical characteristics of the disorder are: hypotonia, symmetrical proximal weakness, atrophy, and reduced to absent deep tendon reflexes. [4] Genetic diagnosis [neurologyindia.com]

• Dysarthria

  […] manifestations such as 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 [explainmedicine.com]

  In about 25% of cases, ALS begins with brainstem symptoms (dysarthria, difficulty swallowing) followed by extremity weakness. This variant is called progressive bulbar palsy and has a worse prognosis. [neuropathology-web.org]

  The condition typically presents in infancy or early childhood and is characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. [chginc.org]

  Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

  These episodes may be associated to dysarthria, diplopia, dystonia and hemiplegia; 50% of patients also suffer from migraine. [docksci.com]

• Hyporeflexia

  Affected infants have hypotonia (often notable at birth), hyporeflexia, tongue fasciculations, and pronounced difficulty sucking, swallowing, and eventually breathing. [merckmanuals.com]

  The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where [explainmedicine.com]

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

  LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. In the early stage of the disease, the clinical aspects of ALS can vary. [aetna.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]

Additional workup in selected patients may include serologies and CSF analysis. Ocular miastenia must be included in the differential diagnosis in all cases of motility disorders, expecially when pupil is not involved. [docksci.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

A “back word” look reveals the tremendous progress in medical diagnosis and treatment of which paediatric orthopaedics and fracture care is a component. Clubfoot treatment based on the dictums of Hiram Kite has had a revolutionary change by Ponseti. [books.google.com]

Physiotherapy treatment will help improve range of movement and posture and improve your child's quality of life. [physio.co.uk]

Medical Treatment Guidelines, Jersey State Board of Physical Therapy, Premier Issue 2009 [new-york-library.com]

Dieticians also play significant role in the treatment. Support is obtained from parents and family member who are all supposed to participate in treatment and make patients feel better and have strength enough to accept and cope with the disease. [ic.steadyhealth.com]

However the prognosis is very good. Often walking will be possible, or the patient will be fully functional for years before assistance is necessary. [ourshootingstar.com]

What is the prognosis? The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. [taoiststudy.com]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

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

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]

Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians. Egypt J Med Hum Genet 2011; [In press]. 11. Kesari A, Rennert H, Leonard DG, Mittal B. SMN1 dosage analysis in spinal muscular atrophy from India. [neurologyindia.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 [ edit ] The TRPV4 (transient receptor potential vanilloid 4) gene, located on chromosome 12, encodes for a protein that serves as an ion channel, typically found in the plasma membrane and is permeable to Ca 2+. [en.wikipedia.org]

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]

CUTTING EDGE/EMERGING AND UNIQUE CONCEPTS AND PRACTICE Cutting edge concepts and practice Advances in our understanding of the genetics of SMA have led to an improved understanding of the pathophysiology of the various forms of SMA. [now.aapmr.org]

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

Supportive therapy is aimed at preventing respiratory and orthopedic complications. Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Physical therapy, braces, and special appliances can benefit patients with static or slowly progressive disease by preventing scoliosis and contractures. [merckmanuals.com]

The current treatment for SMA involves prevention and management of the secondary effect of muscle weakness and loss. Today, much can be done for SMA patients in terms of medical and in particular respiratory, nutritional and rehabilitation care. [genome.gov]

Depending on your requirements, physiotherapy treatment will focus on: Improving joint range of movement, Preventing soft tissue shortening Improving posture in lying, sitting and standing Maximising respiratory function Maintaining muscle strength in [physio.co.uk]