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Neuromuscular Disorders

Neuromuscular disorders include problems which could be of central origin- the brain or spinal cord and of peripheral origin- nerve, muscle or neuromuscular junction. Presentation can be right from birth or later on in childhood or adolescence. Many of these are hereditary and hence multiple members of the family or siblings can be affected.

Conditions included are:

  • Congential muscular dystrophies
  • Congenital myopathies
  • Muscular dystrophies
  • Myopathies
  • Spinal muscular atrophy
  • Neuropathies
  • Neuromuscular junction disorders- myasthenias
  • Myotonic dystrophy

The common presentations to a neurologist includes a floppy infant. The problem might be in the brain, anterior horn cell, muscle, nerve or neuromuscular junction. There is a role of neurophysiological testing such as EMG and NCV in these children.

Might need co-ordination with other experts – to look for respiratory problems, cardiac complications, feeding difficulties, physiotherapist, orthotist involvement.

The other presentations are in infants or children with weakness of lower lombs or all four limbs. A blood test, genetic test or MRI scan maybe helpful. Spinal muscular atrophy and Duchenne muscular dystrophy are two conditions seen more commonly then others.

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