Table 3. [Recommended Evaluations Following Initial Diagnosis in Adults with Myotonic Dystrophy Type 1]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Baseline neurologic evaluation for strength, balance, sensation	Excessive daytime sleepiness is common.
Other	Developmental assessment	To incl assessment of strength & cognitive function
Consultation w/clinical geneticist &/or genetic counselor
Eyes	Ophthalmologic evaluation	By an ophthalmologist familiar w/iridescent posterior subcapsular cataract characteristic of DM1
Cardiovascular	EKG & Holter monitoring	To evaluate syncope, chest pains, palpitations, & other symptoms of potential cardiac origin
Echocardiogram	Consider cardiology referral.
Respiratory	Pulmonary function tests	Pneumonia & flu vaccinations
Referral to pulmonologist if symptomatic
Endocrine	Assessment of thyroid function	Liver enzyme elevation is common.
Fasting blood glucose & HbA1C determination
GI	Clinical assessment for poor swallowing, pseudo-obstruction, diarrhea, gallbladder dysfunction	Consider internal medicine &/or gastroenterology consultation.
Surgery	Evaluate for history of adverse reactions to drugs & anesthesia	Consensus guidelines
Pregnancy	Obstetric consultation	Miscarriage & preterm delivery is common in affected women; see Pregnancy Management.

System/Concern

Evaluation

Comment

Neurologic

Baseline neurologic evaluation for strength, balance, sensation

Excessive daytime sleepiness is common.

Other

Developmental assessment

To incl assessment of strength & cognitive function

Consultation w/clinical geneticist &/or genetic counselor

Eyes

Ophthalmologic evaluation

By an ophthalmologist familiar w/iridescent posterior subcapsular cataract characteristic of DM1

Cardiovascular

EKG & Holter monitoring

To evaluate syncope, chest pains, palpitations, & other symptoms of potential cardiac origin

Echocardiogram

Consider cardiology referral.

Respiratory

Pulmonary function tests

Pneumonia & flu vaccinations

Referral to pulmonologist if symptomatic

Endocrine

Assessment of thyroid function

Liver enzyme elevation is common.

Fasting blood glucose & HbA1C determination

Clinical assessment for poor swallowing, pseudo-obstruction, diarrhea, gallbladder dysfunction

Consider internal medicine &/or gastroenterology consultation.

Surgery

Evaluate for history of adverse reactions to drugs & anesthesia

Consensus guidelines

Pregnancy

Obstetric consultation

Miscarriage & preterm delivery is common in affected women; see Pregnancy Management.

From: Myotonic Dystrophy Type 1

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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