Werdnighoffmann disease is the most severe type of spinal muscular atrophy sma. Werdnighoffmann disease is a form of sma and is otherwise called sma type 1 sma1. It is a severe form of the disorder with muscle weakness evident at. Heidi wolf, in comprehensive pediatric hospital medicine, 2007. Werdnig hoffmann disease is the most severe type of spinal muscular atrophy sma. Approximately 80% of sma patients have the werdnig hoffmann form. Rapid motor neuron death causes inefficiency of the major bodily organs especially of the respiratory system and pneumoniainduced respiratory failure is the most frequent.
Spinal muscular atrophy 1 genetic and rare diseases. Werdnighoffmann disease nord national organization for rare. Spinal muscular atrophy type i also called werdnig hoffmann disease is the most common form of the condition. Known as infantile sma, werdnig hoffmann is a rare, inherited, autosomal recessive neuromuscular disease. The prevalence of all types of spinal muscular atrophy has been estimated to be 47. Both parents unknowingly carry the gene for the disorder, and when the child inherits the defective gene from both parents, the disease develops. Spinal muscular atrophy 1 genetic and rare diseases information. 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.
From the mrc clinical genetics unit, institute of child. Spinal muscular atrophy is a genetic disorder characterized by. However, the true prevalence is estimated to be 1 per 10,000 livebirths, which. Werdnig hoffmann disease an overview sciencedirect topics. Type ii is an intermediate form with an onset of muscle weakness before the age of 18 months. Pdf spinal muscular atrophy type 1 sma1, or werdnighoffmann disease type 1, is an inherited neuromuscular disorder characterized by.
Pronunciation of werdnighoffman disease with 3 audio pronunciations, 2 synonyms, 1 meaning, 9 translations and more for werdnighoffman disease. Spinal muscular atrophy type i also called werdnighoffmann disease is the most common form of the condition. Children with this type cant sit on their own or hold up their head. Known as infantile sma, werdnighoffmann is a rare, inherited. The prevalence of werdnig hoffmann disease was found to be 0.
Spinal muscular atrophy sma type i werdnig hoffman disease is the most common inherited cause of death in infancy, with an incidence varying from 1 in 10,000 to 1 in 25,000 in different populations. Type i sma werdnig hoffman disease is characterized by severe generalized muscle weakness and hypotonia at birth or by the age of 6 months. Spinal muscular atrophy genetics home reference nih. Werdnighoffmann disease nord national organization for. Werdnighoffmann disease is a rare disorder that affects males and females in equal numbers. Werdnig hoffmann disease, type ii and, type iii also called kugelberg welander disease. It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life.950 1024 1570 1205 1542 245 475 900 282 1129 912 720 91 1631 415 25 458 1140 916 1463 405 1340 1424 1276 244 1309 583 1095 273 292