Artigo Revisado por pares

G.P.7 07 Epidemiology of neuromuscular disorders in Portugal at pediatric age

2006; Elsevier BV; Volume: 16; Issue: 9-10 Linguagem: Inglês

10.1016/j.nmd.2006.05.192

ISSN

1873-2364

Autores

M.A. Santos, Isabel Fineza, T. Moreno, Pedro Cabral, José C. Ferreira, R.L. Silva, José Pedro Vieira, André Luís Elias Moreira, Anusha Leah Dias, Enoque Júnio da Rocha Calado, J Pereira Monteiro, Maria João Fonseca, Carla Moço, F. Furtado, Miguel Campos, Rosimeiry Diolindo Ferro Gomes, Celivane Cavalcanti Barbosa, Sónia Figueiroa, Teresa Temudo, Ocílio Ribeiro Gonçalves, Fernanda Rackes da Silva Fagundes,

Tópico(s)

Neurological diseases and metabolism

Resumo

The number of patients with neuromuscular disorders is not known in our country. Our first aim was to identify neuromuscular patients observed by child neurologists and to define the type of disorder. The second one was to achieve the prevalence of these disorders in a paediatric clinic. Child neurologists were asked to send the data from their patients. Data from 2001 census in Portugal were collected. We analysed the data of the 671 patients, observed during the last 10 years at neuropaediatrics clinics in continental Portugal and Azores Islands. We selected 612 with hereditary neuromuscular disorders. In 147, the diagnosis was Duchenne and 24 Becker. We found 34 with sarcoglycanopathies (LGMD2C 19; LGMD2E 10; LGMD2D 4; 1 not characterised), and 2 with LGMDI. Eighteen patients were not classified. AD Emery-Dreifuss was diagnosed in 3 and FSH in 12 patients; 41 patients had myotonic dystrophy. With congenital muscular dystrophy we found 48 patients: 17 merosin-negative, 3 Ullrich, and 1 DMC1C; the remaining are merosin-negative. Congenital myopathies were: multiminicore 5, centronuclear 8, myotubular 3, nemaline 8, and central core 3. Ten patients had congenital myasthenia and 9 congenital myotonia. There were 70 patients with hereditary neuropathies, 28 of those with CMT1. Ninety-eight patients had spinal muscular atrophy: 38 SMA I, 32 SMA II, 14 SMA III, 1 distal, 3 autosomal dominant. From the data of census 2001 we know that there were 1,656,602 children under 15 years. So, if we consider hereditary neuromuscular disorders, its estimated prevalence was 2, 8/10,000 inhabitants under 15 years. This is the first time that we have an estimated prevalence of these disorders. As expected, myopathies are the larger group, with dystrophinopathies being 25% of all neuromuscular disorders. This kind of studies is important to plan the support for these patients.

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