Sma type i, the most severe form werdnighoffmann disease can be detected in. Spinal muscular atrophy 1 sma1, also known as werdnig hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control. Sma type i, the most severe form werdnig hoffmann disease can be detected in. Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord. Spinal muscular atrophy sma is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. Atrofia muscular espinal genetic and rare diseases. The patient reported by werdnig in 1891 was an infant named wilhelm bauer who developed progressive muscular weakness. Death typically occurs within the first 2 years of life. Sma type i, the most severe form werdnighoffmann disease can be detected in utero or during the first months of life. Werdnig hoffmann disease or spinal atrophy type i is part of the spinal muscular atrophies and the most serious of the three clinical forms in existence. Marked hypotonia, sluggish movement and fasciculation of tongue floppy neonate. It is an autosomal recessive hereditary condition, with no treatment, progressive in nature and usually culminates with the death of the patient between. Werdnig hoffmann disease sma type i infantile autosomal recessive. Sma type i, the most severe form werdnig hoffmann disease can be detected in utero or during the first months of life.
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