Atrofia muscular espinal tipo 1 genetic and rare diseases. Sma type i, the most severe form werdnig hoffmann disease can be detected in. The patient reported by werdnig in 1891 was an infant named wilhelm bauer who developed progressive muscular weakness. Some types are apparent at or before birth while others are not apparent until adulthood. Sma type i, the most severe form werdnighoffmann disease can be detected in utero or during the first months of life. Atrofia muscular espinal genetic and rare diseases. Werdnig hoffmann disease sma type i infantile autosomal recessive. Spinal muscular atrophy 1 sma1, also known as werdnig hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control. Marked hypotonia, sluggish movement and fasciculation of tongue floppy neonate. Werdnighoffmann disease or spinal atrophy type i is part of the spinal muscular atrophies and the most serious of the three clinical forms in existence. Sma type i, the most severe form werdnighoffmann disease can be detected in.
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