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Título

PEDIATRIC NEUROMUSCULAR DISORDERS IN A TERTIARY HOSPITAL AT NORTHEASTERN BRAZIL

Resumo

INTRODUCTION: Neuromuscular disorders (NMD) are diagnosed across the lifespan and create many challenges especially with infants, children, and adolescents. NMD typically cause muscle weakness, and usually, the symptoms slowly get worse over time. OBJECTIVE: To evaluate the epidemiological, clinical, and diagnostic profile of pediatric patients with neuromuscular diseases. METHOD: A retrospective cross-sectional study with consultation of outpatient records of child and adolescent population symptomatic for neuromuscular diseases treated at a specialized referral center at a university hospital in northeastern Brazil. The statistical study was descriptive of the variables analyzed. RESULTS: We evaluated 77 patients (60% male), age at onset of symptoms 1day of life-15 years. Affected age group:<2 years=26 (34%, 65% men; and <6months 65.4%); 3-6years=25 (32.4%, 60%men); 7-10 years= 19 (24.6%, 52.6% men); and >11 years=7 (9%, 44.4% men). Diagnoses were grouped into: Myopathies= 45 patients, 58.4% (Mitochondrial 22.2%; Congenital 18%; Metabolic 6.6%; Inflammatory 6.6%; Duchenne Dystrophy (DMD) 15.6%; Sarcoglycanopathies 11.1%; LAMA2- 11.1%; Emery-Dreifuss 4.4%; Becker 2.2%; Collagen 6- 2.2%); Motor Neuron Diseases= 14 patients, 18.2% (Spinal muscular atrophy - SMA-1 50%; SMA-2 7.2%; SMA-3 28.5%; others 14.3%); Neuropathies=11.7% (Charcot Marie Tooth- CMT 77.8%); Myoneural Junction Disease= 7.8% (Myasthenia Gravis (MG) 83.3%; Myasthenia congenital 16.7%); Plexopathy= 3 (3.8%, Traumatic 66.7%; Parsonage Turner 33.3%). Muscle involvement occurred in 11.7% eye (66.7% MG), 28.5% face (32% SMA), 31.2% swallowing (29% SMA), 19.5% neck (46.7% SMA), 72.7% upper limbs, 84.4% lower limbs. Respiratory involvement 26% (SMA 40%; LAMA2 20%). Impairment in walking 53.2% (SMA 29.2%; Dystrophies 19.5%; CMT 14.6%). Intellectual Deficit 10.4% (DMD 50%). Heart disease 6.5% (DMD 40%). CONCLUSION: Our study showed that neuromuscular diseases begin more frequently in boys, infants (especially, younger than 6 months) and preschoolers. More than half of patients have Myopathies (mainly, mitochondrial). The most affected muscle groups were those of 4 members, mainly the lower ones. However, SMA patients were frequently affected by the face, swallowing, neck, breathing and walking, being a greater gravity. Thus, understanding our pediatric population with neuromuscular diseases, accurate diagnosis, correct therapeutic and better prognosis can be performed.

Palavras Chave

neuromuscular disorders; myopathies; motor neuron diseases