Inherited neuromuscular disorders: pathway to diagnosis

J Paediatr Child Health. 2012 Jun;48(6):458-65. doi: 10.1111/j.1440-1754.2011.02210.x. Epub 2011 Nov 3.


Muscle weakness in childhood can be caused by a lesion at any point extending from the motor cortex, brainstem and spinal cord to the anterior horn cell, peripheral nerve, neuromuscular junction and muscle. A comprehensive history and physical examination is essential to aid classification of the neuromuscular disorder and direct gene testing. The more common disorders such as spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy and facioscapulohumeral dystrophy may be diagnosed on direct gene testing based on the history and clinical examination. The congenital myopathies are classified based on structural abnormalities on muscle biopsy, while protein abnormalities on immunohistochemistry and immunoblotting aid classification of the muscular dystrophies. In this review, we provide an approach to diagnosis of a child with weakness, with a focus on the inherited neuromuscular disorders, and the features on history, examination and investigation that help to distinguish between them.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Genetic Testing
  • Humans
  • Medical History Taking
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / genetics
  • Physical Examination