Spinal Muscular Atrophy: Infantile and Juvenile Type
نویسندگان
چکیده
منابع مشابه
Spinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
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Recently, as diagnostic aids of neurological science, not only electromyography but also other techniques such as motor nerve conduction velocity, evoked potentials and strength-duration curve have been performed. In this paper, the first, the standard value of conduction velocities and the critical value of reduced conduction velocities in pathologic condition were discussed, because the probl...
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Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH,...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1979
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.54.11.907-b