Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present three instances in which cytoplasmic bodies in muscle fibers were associated with Werdnig-Hoffmann disease. The children presented within the first 6 weeks of life with clinical symptoms and laboratory studies indicative of infantile spinomuscular atrophy (ISMA). Initial muscle biopsies in each case revealed signs of muscle immaturity and cytoplasmic bodies but lacked features of denervation. Follow-up biopsies in 2 cases revealed changes typical of ISMA, but cytoplasmic bodies were no longer present. A follow-up biopsy was not available in the third child who also had a clinical course consistent with ISMA. We discuss the pathogenesis of cytoplasmic bodies and their significance in association with Werdnig-Hoffmann disease.
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PMID:Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease. 216 61

Ultrastructural studies of the lumbar spinal cord in three children with Werdnig-Hoffmann (W-H) disease type Ia revealed numerous small neurons which appeared both atrophic and immature. We compared these motoneurons with anterior horn cells of a 3-month-old child, a 27-week and a 16-week human fetus, and found (1) that the motoneurons were much smaller in W-H disease, and (2) the Nissl substance was peripherally located and less developed. Signs of motoneuron immaturity as well as secondary degenerative changes suggest that in W-H disease neurons die either because they fail to make adequate peripheral contact or because the neurons are genetically intrinsically defective.
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PMID:Ultrastructural study of motoneurons in Werdnig-Hoffmann disease. 651 87