The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety.
نویسندگان
چکیده
منابع مشابه
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the cl...
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Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملHereditary distal spinal muscular atrophy with vocal cord paralysis.
A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially ...
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Introduction: The purpose of this article is to evaluate the status of articles in the field of Spinal Muscular Atrophy According to the Scientometrics indices Word co-occurrence map of this field . Methods: The present study is an applied one with a quantitative approach and a descriptive approach. It has been done using scientometrics and the co-occurrence words analysis technique. Document...
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ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 58 683 شماره
صفحات -
تاریخ انتشار 1982