Letter: Diagnosis of childhood spinal muscular atrophy.

Spinal muscular atrophy in childhood.

Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data. The prolongated or markedly delayed process of muscle cell and motoneuron elimination by ap...

Spinal 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...

Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR

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...

Genetics 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...