Recognition and management of motor delay and muscle weakness in children

Diagnosis of neuromuscular disorders in young children is often delayed for years after symptoms emerge, resulting in missed opportunities for therapy and genetic counseling. Identification of the weak child begins with careful attention to caregiver concerns and developmental surveillance at well-child visits. Family and medical histories can differentiate inherited from acquired causes of weakness. Physical examination should include observation of ageappropriate motor skills such as pull-to-sit, sitting, rising to stand, and walking/running. Serum creatine kinase levels should always be measured in children exhibiting neuromuscular weakness. Referrals to early intervention programs should not be postponed pending definitive diagnosis. If motor delay does not improve with early intervention, referral to a pediatric neurologist for diagnostic assessment is recommended. Tongue fasciculations, loss of motor milestones, or creatine kinase level greater than three times the normal limit should prompt immediate neurology referral. Once a neuromuscular disorder is diagnosed, the primary care clinician can help the family navigate subspecialty visits and consultations, advocate for services in the school and home, and help them cope with the emotional stresses of caring for a child with special needs.