Neonatal spinal muscular atrophy presenting as respiratory distress: A clinical variant
β Scribed by D. Schapira; Dr. M. Swash
- Book ID
- 118285355
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 364 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0148-639X
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## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin ΞΌβbinding protein 2 (__IGHMBP2__)
A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The rat