Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Contractures are exceedingly common impairments in selected progressive NMD conditions, particularly those with excessive fibrosis and fatty infiltration into muscle (i.e., dystrophic myopathies) and more severe NMD conditions, resulting in significant weakness and wheel-chair reliance, such as SMA. Less than antigravity strength produces an inability to achieve full active range of motion. Static positioning of limbs (generally in flexion) and lack of weight bearing results in fixed contractures. This article has reviewed the prevalence and distribution of contractures in specific NMD conditions. Aggressive rehabilitation strategies, including stretching, positioning, splinting, upright weight bearing, and orthopaedic surgical management may help minimize the degree of disability in NMD patients with contractures.
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PMID:Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery. 989 40

There is a broad range of cognitive function in persons with neuromuscular disease, both between and within the various types. Those groups exhibiting little or no cognitive impairment included FSHD, LGS, BMD, SMA, and HMSN. DMD and MD--particularly C-MD-groups did show deficits. The data on HSCA are too minimal to reach any firm conclusion at this time. Specific patterns of deficits in DMD have been proposed, but need further research. No specific correlates with diminished intellectual function have yet been found, and the search for a cause of the intellectual deficit has as yet been unsuccessful. Nevertheless, the impact of NMD on psychosocial and educational function of both children and adults is significant. It is recommended that supportive services be provided by medical professionals specifically trained in such helping professions as psychology to lessen the impact of these chronic progressive diseases and thus to improve the quality of life of persons with NMD.
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PMID:Cognitive, psychosocial, and educational issues in neuromuscular disease. 989 43

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.
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PMID:Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. 2416 38

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR). In Europe, 4653 patients were genetically diagnosed by the genetic laboratories in the 5-year period 2011 to 2015, with 992 diagnosed in 2015 alone. The data provide an estimated incidence of SMA in Europe of 1 in 3900-16,000 live births. Patient numbers in the national patient registries and CTSR were considerably lower. By far, most patients registered in the national patient registries and the CTSR live in Europe and are reported to have SMA type II. Considerable differences between countries in patient participation in the registries were observed. Our findings indicate that not all patients with SMA are accessed by specialist healthcare services and these patients may not have access to research opportunities and optimal care.
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PMID:A multi-source approach to determine SMA incidence and research ready population. 2863 52