Genetics of Juvenile Spinal Muscular Atrophy
نویسندگان
چکیده
منابع مشابه
Genetics of Childhood Spinal Muscular Atrophy ELIZABETH
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملGenetics of childhood spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملSpinal 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...
متن کاملNon familial juvenile distal spinal muscular atrophy of upper extremity.
An uncommon variety of non familial, juvenile onset, spinal muscular atrophy with asymmetric distal upper extremity affection is described. One hundred and two patients with a one to 14 year follow up are analysed. Spinal muscular atrophies with a distal distribution are rare. However, in the past three decades, previously unrecognised varieties of neurogenic muscular atrophy have been describe...
متن کاملJuvenile proximal spinal muscular atrophy with early hypertrophy of calves.
The clinical, electrophysiological, histological and ultrastructural features of a patient with chronic spinal muscular atrophy of adolescent onset associated with hypertrophied calf-muscle are described. This recently recognised entity must be distinguished from other types of spinal muscular atrophy.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1997
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-11-6-10