Pediatr. praxi. 2012;13(6):365-368

Neuromuscular diseases in childhood

MUDr.Dana Šišková

Dětská neurologie, Thomayerova nemocnice, Praha

The article deals with neuromuscular diseases in childhood, i.e. disorders of some of the structures of the peripheral nervous system

(PNS) or, in other words, of the motor unit. This starts with the motor neuron in the anterior horns of the spinal cord, continues with

an axon, and synapses with a skeletal muscle cell at the motor end-plate. Sensory and autonomic nerve fibres are also a part of the

peripheral nervous system. At all these levels, a lesion can develop that can be either congenital or of a genetic nature (which does not

mean, however, that it will be manifested immediately at birth) as well as due to numerous other causes, including ischaemia, inflammation,

trauma, toxic effects, and others. A timely and correct diagnosis is necessary to determine the therapeutic strategy and, whenever

possible, causal treatment as well as genetic counselling in the case of hereditary diseases.

Keywords: neuromuscular diseases, spinal muscular atrophy, neuropathy, myasthenia, muscular dystrophy, myopathy

Published: December 1, 2012  Show citation