Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
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 ¹	To inform affected persons & their families re nature, MOI, & implications of CMS to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

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 ¹

To inform affected persons & their families re nature, MOI, & implications of CMS to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Congenital Myasthenic Syndromes Overview

GeneReviews^® [Internet].

Adam MP, Mirzaa GM, Pagon RA, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2023.

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