Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1
نویسندگان
چکیده
INTRODUCTION SMA-1, also known as Werdnig-Hoffmann disease, is the most common neuromuscular disease of hypotonic newborns. Its incidence is over 1 per 8000 births and is a common cause of sudden infant death syndrome. It is characterized by the degeneration of the anterior horn cells of the spinal cord and of the motor nuclei in the lower brainstem (1). About 99% of patients have deletions in exons 6 and 7 of chromosome 5q13 causing a decrease in the transcription of survival motor neuron (SMN) protein. The SMAs are classified as types 1 through 4. Children with type 1 are hypotonic at birth, never sit independently, and 85% develop acute respiratory failure (ARF) before 18 months of age and the remainder, subsequently (2). Patients with severe SMA-1 either die or become continuously respirator-dependent before 6 months of age; patients with typical SMA-1 develop ARF during otherwise benign upper respiratory tract infections (URIs) at 6 to 18 months of age; and the 10 to 15% with mild SMA1 develop ARF during URIs (2). When intubated for acute ARF, only 6% of the conventionally managed typical SMA1 patients are successfully extubated without undergoing tracheotomy (3). Although there are numerous reports of severe and typical SMA-1 patients dying from ARF before 18 months of age (4-6), it has also been reported that these patients can survive for years when undergoing tracheotomy for long-term tracheostomy mechanical ventilation (TMV) (3,7). Thus far, however, only one center has reported prolonged survival in SMA-1 by continuous long-term noninvasive intermittent positive pressure ventilatory support (CNVS) or high span (inspiratory positive airway pressure [IPAP], expiratory PAP [EPAP] spans greater than 10 cm H2O) bi-level PAP without the need to resort to tracheotomy (3). This has led to intubated children with SMA-1 being flown to that center from their native lands to avoid tracheotomy by being successfully extubated despite having failed extubation attempts and all spontaneous breathing trials (8). In some cases, families have emigrated to avoid their children from ever having to undergo tracheotomy. This is a report of one such patient who, along with her family, emigrated from Iran to prolong her survival without undergoing tracheotomy.
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عنوان ژورنال:
دوره 12 شماره
صفحات -
تاریخ انتشار 2013