Spinal muscular atrophy type I (medical condition): A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles. The condition is relatively rare and is characterized by muscle weakness which leads to structural deformities and ...more
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Spinal Muscular Atrophy type I:
»Introduction: Spinal Muscular Atrophy type I
»Symptoms of Spinal Muscular Atrophy type I
Spinal muscular atrophy type I: [MIM*253300] the early infantile form, characterized by profound muscle weakness and wasting with onset at or shortly after birth; death occurs usually before 2 years of age. Autosomal recessive inheritance, caused by mutation in the survival motor neuron gene (SMN1) on 5q. About half of affected patients are also missing both homologues of a neighboring gene that encodes neuronal apoptosis inhibitory protein (NAIP), the loss of which is thought to influence the severity of the disease. SYN: familial spinal muscular atrophy, Hoffmann muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
These medical condition or symptom topics may be relevant to medical information for Spinal muscular atrophy type I:
Spinal muscular atrophy type I (medical condition): See Spinal Muscular Atrophy type I (disease information).
»Introduction: Spinal Muscular Atrophy type I
»Symptoms of Spinal Muscular Atrophy type I
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