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Spinal muscular atrophy
Bohatá, Jana ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which affects α-motor neurons in anterior horns of spinal cord resulting in progressive muscle weakness. The estimated incidence is 1:10 000 and carrier frequency 1:40-1:60. SMA is classified into four grades depending on the age of onset and its severity. Life expectancy differs according to grade of SMA, patients suffering from the most serious grades live about two years, milder could live to adulthood. This disorder is caused by mutation of the SMN1 gene which is located on the fifth chromosome. In the majority of cases the type of mutation is homozygous deletion in SMN1 gene. Keywords: Spinal muscular atrophy; neuromuscular disorder; alpha motor neurons; autosomal recessive disorder; SMN1; SMN2
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Minor forms of spinal muscular atrophy
Metelcová, Tereza ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Spinal muscular atrophy (SMA) is neuromuscular disorder. This disorder affects motor neurons in anterior horns of spinal cord and brainstem, and cause muscle weakness. Some forms of SMA may be cause by damage peripheral nerve. The most significant difference in the pathology of SMA emerging at the level of the spinal cord and peripheral nerves is deterioration of sensory ability. Decreased ability of sensation, due to damage to sensory nerves. Nowadays, it is known 29 forms of SMA, which differ genetically, age of onset of the disorder, severity of symptoms and life expectancy. Mutation of minor forms of SMA is very diverse. Mutated genes are located on 15 different chromosomes, including the X chromosome. Clinical symptoms of SMA is similar in most forms. Several forms has another symptom besides muscular weakness. Nowadays, it is not yet known genetic cause of all forms of SMA
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Physiotherapy for patients with Spinal Muscular Atrophy - therapeutic use methods and assistive devices to delay neuromuscular spinal deformities
KUBIČKOVÁ, Karolína
In my bachelor work I look into the problems of the spinal muscular atrophy, assess both the effect of physiotherapy performed and utilization of compensation aids to control the progression of the disease. SMA presents an autosomal recessive genetic progressive disease of neuromuscular system, in the course of which muscular hypotonia, even atrophy develops. This process origins in a gradual deterioration of motoneutrons of frontal spinal corners. SMA ranks among rare hereditory diseases when both parents of the affected patient are bearers of a defective gen, although the illness doesn´t manifest in them themselves. The illness, in its medium and more advanced forms, starts usually its occurence in an early childhood. The rapidity of SMA progression differs in every individual. The patiens who suffer from this illness are mostly dependent on a wheelchair and their lifetime is substantially limited. Neither pathogenesis, nor treatment are currently known.One of major problems, which are brought by the illness, is the start of a backbone neuromuscular deformities which gradually deteriorates. A progressing scoliosis is often so significant that a surgical treatment becomes inevitable because compression of internal organs reaches such a condition that a conservative treatment is not sufficient any more. The patiens often complains of a back and hip painfulness. Viewed by physiotherapy, it seems inevitable to select a correct, individual therapy for every affected person and to recommend them suitable compensation aids. In particular, the choice of a wheelchair must be done with a proper care. Especially the quality of the sitting part and the part catering for a sufficient stability of the body, present the most important items to check while selecting a wheelchair. The importance of a proper wheelchair results from the fact that the SMA patiens spend in it most of their lifetime and that´s why the comfort of usage and the limitation of both backbone deformities and pelvis obliquities appears so important.In the theoretical part of my work I focused on the definition of SMA disease. I stated the classification of SMA and the therapy options. Next, I mentioned the physiotherapy methods, which are most often employed in therapy and compensation aids, which are inevitable for the SMA patiens and present a slowdown of the disease progression. A high quality and suitably selected compensation aid participates in a partial deceleration of occurence or progression of neuromuscular deformation of the backbone.This bachelor thesis aims at monitoring of physiothrapy application chances in SMA. It examines if the illness can be partially affected by employing physiotherapeutical methods. In addition, it deals with the availability and effectivity of compensation aids.
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