We report a case of type i spinal muscular atrophy sma, also known as werdnighoffmann disease. The patient reported by werdnig in 1891 was an infant named wilhelm bauer who developed progressive muscular weakness. It is an autosomal recessive hereditary condition, with no treatment, progressive in nature and usually culminates with the death of the patient between. We report a case of type i spinal muscular atrophy sma, also known as werdnig hoffmann disease. 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.
It is an autosomal recessive condition characterised by the degeneration of anterior horn cells, leading to profound symmetrical weakness and wasting of voluntary muscle. We report a case of type i spinal muscular atro phy sma, also known as werdnighoffmann disease. The onset of weakness ranges from before birth to adulthood. Sma type i, the most severe form werdnighoffmann disease can be detected in utero or during the. Werdnighoffmanns infantile progressive muscular atrophy.
Werdnighoffmann is a degenerative neuromuscular disease, autosomal recessive, characterized by weakness and muscle atrophy. The patient was in the pediatric intensive care unit of a medical center. Werdnig hoffman especialidades medicas medicina clinica. Spinal muscular atrophy 1 sma1, also known as werdnig hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles motor neurons. Atrofia muscular espinal tipo 1 genetic and rare diseases. The cases comprise an unselected consecutive series in which rigid diagnostic criteria have been applied.
Dec 14, 2016 werdnig hoffmann disease is a form of sma and is otherwise called sma type 1 sma1. Rapid motor neuron death causes inefficiency of the major bodily organs especially of the respiratory system and pneumoniainduced respiratory failure is the most frequent. The objective of this study was to describe werdnig hoffmann s syndrome, its functional characteristics, and the nursing professionals knowledge regarding the patient with swh. Mental development is preserved, vivacity and intelligence stand out in contrast to poor motor activity.
It is an autosomal recessive hereditary condition, with no treatment, progressive in nature and usually. Werdnig hoffmann is a degenerative neuromuscular disease, autosomal recessive, characterized by weakness and muscle atrophy. Sma type i, the most severe form werdnig hoffmann disease can be detected in utero or during the. Desidererei avere informazioni riguardo alla malattia di werdnighoffmann.
We report a case of type i spinal muscular atro phy sma, also known as werdnig hoffmann disease. The natural history of the disease has been investigated. Spinal muscular atrophy sma is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord i. Spinal muscular atrophy 1 genetic and rare diseases. The weakness is symmetric, proximal distal, and progressive. Werdnig hoffman syndrome whs is a hereditary neuromuscular disorder characterized by progressive muscle weakness and atrophy, which prevents motor skills development. In at least onethird of cases the disease is manifest before or at delivery.
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