Spinal muscular atrophy with respiratory distress tpe 1 (SMARD1) – clinical history and rehabilitation of two 24-hours-home-ventilated children

Introduction: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in which the genetic defect on chromosome 11q13 was detected (Grohmann et al. 1999). The disease of the mostly 24-hours-ventilated children requires efforts to rehabilitation, medical maintenance and especially the families.

Methods: The clinical history of two 24-hours-home-ventilated, tracheostomized children (female *07/2000; male *09/2001) affected with SMARD1 is reviewed in clinical interventions, therapy and home care. Examinations during stays in the clinic, conversations with parents and therapeutic methods are the basis of evaluation. Major part in the representation is the discussion of possibilities and difficulties in social integration into family and community.

Results: Clinical history of both children from first symptomes of the disease to respiratory failure with necessary mechanical ventilation and muscle weakness are similar. Differences exist in complications which lead to clinical stays and effect the statomotoric development.

Conclusions: Medical suppositions for home care by qualified persons and the medical equipment (ventilation machine, monitoring) exists. Psychic and financial problems which develope in the families should be valued. The advantages for the children especially in cognitive development and social integration are important.

Keywords: SMARD1, spinal muscular atrophy, home ventilation, rehabilitation