Medical Definition of Spinal muscular atrophy
1.
2nd most common autosomal recessive disease in Caucasians, pathology, degeneration of the spinal anterior horn cells, atrophy and wasting of skeletal muscles, types, SMA I = Werdnig-Hoffman disease: rapidly progressive, SMA II = intermediate form, SMA III = Kugelberg-Welander disease: slowly progressive, uncommon adult forms, usual presentations, floppy baby, arthrogryposis, muscle weakness in infancy, diagnosis, weakness and wasting with areflexia, electrophysiology shows anterior horm cell disease, genetics, linked to chromosome 5q., neuronal apoptosis inhibitory protein (NAIP) gene, survival motor neuron (SMN) gene
(12 Dec 1998)
Lexicographical Neighbors of Spinal Muscular Atrophy
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