Juvenile proximal spinal muscular atrophy with early hypertrophy of calves.
نویسندگان
چکیده
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.
منابع مشابه
A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.
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 کاملSpinal muscular atrophy in childhood
Moosa, A., and Dubowitz, V. (1973). Archives of Disease in Childhood, 48, 386. Spinal muscular atrophy in childhood: two clues to clinical diagnosis. A coarse tremor was noted in 13 children suffering from the childhood form of spinal muscular atrophy. Tremor has not been seen in any other condition producing proximal muscle weakness in childhood, and its presence should therefore suggest the d...
متن کاملA Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
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 کاملSpinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Postgraduate medical journal
دوره 59 691 شماره
صفحات -
تاریخ انتشار 1983