[A clinical approach in neuromuscular diseases in childhood].
The group of neuromuscular disorders includes disorders of the motor neurons in the medulla oblongata and myelon, the peripheral nerves, the neuromuscular junction, and of the muscle. Clinical manifestation varies from pre-/perinatal to adulthood. The prevalence of all neuromuscular disorders is about 1:1500. In the last years, knowledge of genetic defects in neuromuscular disorders has dramatically increased. This is due to an increase in knowledge of the underlying genetic defects. Hence the classification of the neuromuscular disorders is still changing. In clinical practice the history and the clinical examination of patients with suspected NMDs is very important in the correct selection of the necessary investigations. Many investigations are possible, but should be chosen according to the patient's symptoms. Careful interpretation of the results most often defines diagnosis. The aim of this article is to establish a work-up according to the patient's symptoms and problems in childhood.
Ramelli
Gian Paolo
GP
Servizio Cantonale di Neuropediatria, Ospedale Regionale Bellinzona e Valli, Bellinzona. gianpaolo.ramelli@eoc.ch
Herrmann
U
U
Lütschg
J
J
D002648:Child; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy