What are the referral criteria for a child suspected of having muscular dystrophy to a specialist neuromuscular clinic?

Referral to a specialist in paediatric neurology, which includes neuromuscular clinics, should be considered for a child suspected of having muscular dystrophy based on several criteria.

• Key indicators for referral include:
  • Progressive limb weakness warrants urgent neurological assessment ².
  • Motor development regression should prompt referral to a paediatric neurodevelopmental service or paediatric neurology, depending on locally agreed pathways ².
  • For boys with limb weakness, motor development delay, or motor development regression, it is important to consider measuring the creatinine kinase (CK) level to help exclude Duchenne muscular dystrophy before a specialist review ².
• Additionally, certain "red flags" for neurological disorders other than cerebral palsy should lead to referral to a specialist in paediatric neurology:
  • A family history of a progressive neurological disorder ³.
  • Loss of already attained cognitive or developmental abilities ³.
  • Development of unexpected focal neurological signs ³.
  • MRI findings suggestive of a progressive neurological disorder ³.