The cases comprise an unselected consecutive series in which rigid diagnostic criteria have been applied. In at least onethird of cases the disease is manifest before or at delivery. Spinal muscular atrophy 1 genetic and rare diseases. 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. The weakness is symmetric, proximal distal, and progressive. We report a case of type i spinal muscular atro phy sma, also known as werdnighoffmann disease. The patient reported by werdnig in 1891 was an infant named wilhelm bauer who developed progressive muscular weakness. Sma type i, the most severe form werdnighoffmann disease can be detected in utero or during the.
Werdnighoffmann is a degenerative neuromuscular disease, autosomal recessive, characterized by weakness and muscle atrophy. The natural history of the disease has been investigated. We report a case of type i spinal muscular atrophy sma, also known as werdnig hoffmann disease. The onset of weakness ranges from before birth to adulthood. Werdnighoffmanns infantile progressive muscular atrophy. The patient was in the pediatric intensive care unit of a medical center.
It is an autosomal recessive condition characterised by the degeneration of anterior horn cells, leading to profound symmetrical weakness and wasting of voluntary muscle. Rapid motor neuron death causes inefficiency of the major bodily organs especially of the respiratory system and pneumoniainduced respiratory failure is the most frequent. Werdnig hoffman especialidades medicas medicina clinica. 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. 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. Is early in the prenatal period, for reduction of fetal movement, at birth or before the six months of life where the.
Dec 14, 2016 werdnig hoffmann disease is a form of sma and is otherwise called sma type 1 sma1. 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. 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. Atrofia muscular espinal tipo 1 genetic and rare diseases. It is an autosomal recessive hereditary condition, with no treatment, progressive in nature and usually culminates with the death of the patient between.
1409 631 1102 102 76 72 989 706 844 1597 1461 201 1027 807 1239 1468 49 1159 582 1056 531 154 1170 516 795 593 927 1347 566 934 962 942 462 1257 1132 931 1178 1475 1230 1442 888 1448 1433 1086