Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with a Congenital Myasthenic Syndrome

Neuromuscular Assessment of strength & motor function; in children, assessment of motor, speech, & cognitive development
Respiratory function
  • Baseline pulmonary function tests incl forced vital capacity in sitting & supine positions & blood gas exchange
  • Polysomnography to identify persons w/nocturnal hypoventilation
  • Review of history for symptoms of hypercapnia: daytime headache, restless sleep, loss of concentration, snoring, recurrent respiratory infections, weight loss
Respiratory studies may be normal between episodes in persons who experience acute crises.
Feeding ability
  • Assessment of feeding abilities (sucking, swallowing, gastroesophageal reflux)
  • Eval of growth parameters to determine need for feeding interventions incl gavage feeding or gastrostomy insertion
Contractures /
Joint issues
  • Assessment by physiatrist &/or orthopedist
  • Radiologic exam if spinal curvature noted
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CMS to facilitate medical & personal decision making
Family support
& resources
Assess need for:

CMS = congenital myasthenic syndromes; MOI = mode of inheritance


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Congenital Myasthenic Syndromes Overview

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