Manejo de longo prazo em crianças com transtornos neuromusculares

Abstract

Objective: Duchenne muscular dystrophy is the commonest genetic myopathy but there exist a large number of inherited neuromuscular diseases which individually are very rare and where clinical information is not widely available. This review is based on the author's experience in a pediatric muscle clinic and provides practical guidance and treatment plans for frequently encountered problems. Sources:A MEDLINE search was conducted to retrieve recent articles relevant to the management of children with inherited myopathies and neuropathies. A patient cohort (n = 200) was evaluated using descriptive statistics. Summary of the findings:Duchenne muscular dystrophy accounted for almost half of the diagnoses, followed by spinal muscular atrophy (12%), Becker muscular dystrophy and myotonic dystrophy (7% each). Sixteen patients (9%) had an unknown myopathy. Conclusions:As with other chronic illnesses, these patients should be regularly reviewed by health professionals from an early age to increase life expectancy and improve quality of life. It is useful for physicians to take a structured approach when looking after children with neuromuscular disorders and to monitor all affected organ systems. J Pediatr (Rio J). 2009;85(5): 379 IntroductionInherited neuromuscular disorders (NMDs) affect approximately one in 3,500 children worldwide, and Xlinked Duchenne muscular dystrophy (DMD) has the highest incidence among them. Many conditions present with muscle weakness and wasting and can be diagnosed by genetic mutation analysis alone, but muscle, skin or nerve biopsy still remain important diagnostic tools. Although various strategies for genetic therapies of these diseases are being explored, the cornerstones of current treatment are symptomatic and supportive healthcare. 1,2 Comprehensive reviews on specific NMDs have been published but it can be a challenge for the novice or the busy clinician to keep up to date with the latest literature when looking after children suffering from a wide range of rare disorders. [3][4][5] However, when monitoring these chronically ill patients over a prolonged period, certain recurring themes can be observed that are pertinent to most NMDs. These themes can be ascribed to the specific muscle or nerve pathology and its effect on other systems of the body.Here, the author describes his experience of following up 200 children presenting to a pediatric muscle clinic during a 3-year period. Long-term management of children with neuromuscular disordersEugen-Matthias Strehle* 380 Jornal de Pediatria -Vol. 85, No. 5, 2009 Disease n (%) Becker muscular dystrophy 12 (7)Myotonic dystrophy 11 (7)Merosin-negative congenital muscular dystrophy 5 The remaining 170 patients presented with 18 different diagnoses ( Table 1). Systems MuscularAt each 1-hour assessment a detailed medical history with emphasis on mobility covering the preceding months was obtained, and any concerns raised by the parent/caregiver or patient were addressed. Muscle strength was measured SkeletalDespite regular physi...

Crianças com deficiência: compreendendo seu cotidiano e a importância do uso de recursos tecnológicos na atenção em Terapia Ocupacional

“…Geralmente, a indicação é feita para uso diurno ou noturno, variando conforme o caso de a criança conseguir deambular ou utilizar cadeira de rodas (Strehle, 2009 Eu vi que na gaveta tinha um caderno e pedi para ver. Ele tinha feito alguns desenhos.…”