Spinal muscular atrophy 1 sma1, also known as werdnig hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control. Hf deaths in dmd occur in young patients and increase, along with. All generally result in worsening muscle weakness associated with muscle twitching. Spinal muscular atrophy sma is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. However, they were characterized by the following three unusual features. They are inherited from a persons parents in an autosomal recessive manner. Loss of these neurons prevents the sending of signals between the brain and skeletal muscles. Spinal muscular atrophy is due to a genetic defect in the smn1 gene. The severity of symptoms and age of onset varies by the type. We report a case of type i spinal muscular atrophy sma, also known as werdnig hoffmann disease. Some types are apparent at or before birth while others are not apparent until adulthood. The smn1 gene encodes smn, a protein necessary for survival of motor neurons. It is characterized by early onset, hypotonia and wasting of muscles, complete flaccid paralysis, and death.
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